Listado completo de enfermedades genéticas hereditarias.
GEN
ENFERMEDAD GENICA
IMPACTO
(ALTO O MEDIO)
MEJORA CON TRATAMIENTO
PATRÓN HERENCIA
GCDH
Acidemia glutárica, tipo I
AR
DESCRIPCIÓN Acidemia glutárica, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ETFA
Acidemia glutárica, tipo IIA
AR
DESCRIPCIÓN Acidemia glutárica, tipo IIA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ETFB
Acidemia glutárica, tipo IIB
AR
DESCRIPCIÓN Acidemia glutárica, tipo IIB:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ETFDH
Acidemia glutárica, tipo IIC
AR
DESCRIPCIÓN Acidemia glutárica, tipo IIC:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IVD
Acidemia isovalérica
AR
DESCRIPCIÓN Acidemia isovalérica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PDHX
Acidemia láctica debido a deficiencia de PDX1
AR
DESCRIPCIÓN Acidemia láctica debido a deficiencia de PDX1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MMAA
Acidemia metilmalónica: Relacionada con MMAA
AR
DESCRIPCIÓN Acidemia metilmalónica: Relacionada con MMAA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MMAB
Acidemia metilmalónica: Relacionada con MMAB
AR
DESCRIPCIÓN Acidemia metilmalónica: Relacionada con MMAB:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MUT
Acidemia metilmalónica: Relacionada con MUT
AR
DESCRIPCIÓN Acidemia metilmalónica: Relacionada con MUT:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PCCA
Acidemia Propiónica: Relacionada con PCCA
AR
DESCRIPCIÓN Acidemia Propiónica: Relacionada con PCCA
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PCCB
Acidemia Propiónica: Relacionada con PCCB
AR
DESCRIPCIÓN Acidemia Propiónica: Relacionada con PCCB:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AUH
Aciduria 3-metilglutacónica, tipo I
AR
DESCRIPCIÓN Aciduria 3-metilglutacónica, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OPA3
Aciduria 3-metilglutacónica, tipo III
AR
DESCRIPCIÓN Aciduria 3-metilglutacónica, tipo III:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DNAJC19
Aciduria 3-metilglutacónica, tipo V
AR
DESCRIPCIÓN Aciduria 3-metilglutacónica, tipo V:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ETHE1
Aciduria etilmalónica
AR
DESCRIPCIÓN Aciduria etilmalónica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MMACHC
Aciduria metilmalónica y homocistinuria, tipo cblC
AR
DESCRIPCIÓN Aciduria metilmalónica y homocistinuria, tipo cblC:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MVK
Aciduria mevalónica
AR
DESCRIPCIÓN Aciduria mevalónica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC26A2
Acondrogénesis tipo 1B
AR
DESCRIPCIÓN Acondrogénesis tipo 1B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ABCD1
Adrenoleucodistrofia, ligada al X
LXR
DESCRIPCIÓN Adrenoleucodistrofia, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FGA
Afibrinogenemia congénita
AR
DESCRIPCIÓN Afibrinogenemia congénita:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BTK
Agammaglobulinemia 1, ligada al X
AR
DESCRIPCIÓN Agammaglobulinemia 1, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MAN2B1
Alfa manosidosis
AR
DESCRIPCIÓN Alfa manosidosis:
Patrón de herencia autosómico recesivo con prevalencia 1/1.000.000 Edad de aparición infantil con inmunodeficiencia y déficit
intelectual.
HBA1
Alfa talasemia
AR
DESCRIPCIÓN Alfa talasemia:
Patrón de herencia autosómico recesivo con prevalencia 1/10.000. El cuadro clínico es variable acorde al número de alelos
afectados presentándose desde anemia leve hasta hídrops fetal o déficit intelectual.
CEP290
Amaurosis congénita de Leber: Relacionada con CEP290
AR
DESCRIPCIÓN Amaurosis congénita de Leber: Relacionada con CEP290:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HBB
Anemia de células falciformes
AR
DESCRIPCIÓN Anemia de células falciformes:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FANCC
Anemia de Fanconi, tipo C
AR
DESCRIPCIÓN Anemia de Fanconi, tipo C:
Patrón de herencia autosómico recesivo con prevalencia 1/360.000. La edad de aparición es temprana con insuficiencia de médula
ósea y desarrollo de tumores.
ERCC4
Anemia de Fanconi, tipo Q
AR
DESCRIPCIÓN Anemia de Fanconi, tipo Q:
Patrón de herencia autosómico recesivo con prevalencia 1/360.000. La edad de aparición es temprana con insuficiencia de médula
ósea y desarrollo de tumores.
GSS
Anemia hemolítica por deficiencia de glutatión sintetasa
AR
DESCRIPCIÓN Anemia hemolítica por deficiencia de glutatión sintetasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SACS
ARSACS (Ataxia espástica de Charlevoix Saguenay)
AR
DESCRIPCIÓN ARSACS (Ataxia espástica de Charlevoix Saguenay):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
VPS33B
Artrogriposis, disfunción renal y colestasis 1
AR
DESCRIPCIÓN Artrogriposis, disfunción renal y colestasis 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
VIPAS39
Artrogriposis, disfunción renal y colestasis 2
AR
DESCRIPCIÓN Artrogriposis, disfunción renal y colestasis 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ZIC3
Asociación VACTERL, ligada al X
AR
DESCRIPCIÓN Asociación VACTERL, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PTEN
Asociación VATER con macrocefalia y ventriculomegalia
AR
DESCRIPCIÓN Asociación VATER con macrocefalia y ventriculomegalia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATM
Ataxia - telangiectasia
AR
DESCRIPCIÓN Ataxia - telangiectasia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
APTX
Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano
AR
DESCRIPCIÓN Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TTPA
Ataxia con deficiencia de vitamina E
AR
DESCRIPCIÓN Ataxia con deficiencia de vitamina E:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TPP1
Ataxia espinocerebelar 7
AR
DESCRIPCIÓN Ataxia espinocerebelar 7:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC26A2
Atelosteogénesis tipo 2
AR
DESCRIPCIÓN Atelosteogénesis tipo 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
UBA1
Atrofia muscular espinal infantil, ligada al X 2
AR
DESCRIPCIÓN Atrofia muscular espinal infantil, ligada al X 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DESCRIPCIÓN Atrofia muscular espinal distal, autosómica recesiva 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATP7A
Atrofia muscular espinal distal, ligada al X 3
LXR
DESCRIPCIÓN Atrofia muscular espinal distal, ligada al X 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SMN1
Atrofia Muscular Espinal, ligada a SMN1
AR
DESCRIPCIÓN Atrofia Muscular Espinal, ligada a SMN1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HBB
Beta talasemia
AR
DESCRIPCIÓN Beta talasemia:
Patrón de herencia autosómico recesivo con incidencia 1/100.000. La edad de aparición es infantil. La talasemia mayor se
asocia con esplenomegalia y anemia.
ENPP1
Calcificación arterial generalizada de la infancia 1
AR
DESCRIPCIÓN Calcificación arterial generalizada de la infancia 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SCO2
Cardioencefalomiopatía infantil fatal debido a deficiencia del citocromo c oxidasa 1
AR
DESCRIPCIÓN Cardioencefalomiopatía infantil fatal debido a deficiencia del citocromo c oxidasa
1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COX15
Cardioencefalomiopatía infantil fatal debido a deficiencia del citocromo c oxidasa 2
AR
DESCRIPCIÓN Cardioencefalomiopatía infantil fatal debido a deficiencia del citocromo c oxidasa
2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FKTN
Cardiomiopatía dilatada 1X
AR
DESCRIPCIÓN Cardiomiopatía dilatada 1X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ASS1
Citrulinemia, tipo I
AR
DESCRIPCIÓN Citrulinemia, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATP8B1
Colestasis intrahepática recurrente beningna
AR
DESCRIPCIÓN Colestasis intrahepática recurrente beningna:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATP8B1
Colestasis intrahepática familiar progresiva 1
AR
DESCRIPCIÓN Colestasis intrahepática familiar progresiva 1
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ABCB11
Colestasis intrahepática familiar progresiva 2
AR
DESCRIPCIÓN Colestasis intrahepática familiar progresiva 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ABCB4
Colestasis intrahepática familiar progresiva 3
AR
DESCRIPCIÓN Colestasis intrahepática familiar progresiva 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ABAB11
Colestasis intrahepática recurrente benigna 2
AR
DESCRIPCIÓN Colestasis intrahepática recurrente benigna 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC4
Complejo xeroderma pigmentoso grupo F - Síndrome de Cockayne
AR
DESCRIPCIÓN Complejo xeroderma pigmentoso grupo F - Síndrome de Cockayne:
Patrón de herencia autosómico recesivo con prevalencia 1/1.000.000. Edad de aparición variable con síntomas como fotosensibilidad
y sequedad cutánea y desarrollo de cáncer de piel.
ERCC5
Complejo xeroderma pigmentoso grupo G - Síndrome de Cockayne
AR
DESCRIPCIÓN Complejo xeroderma pigmentoso grupo G - Síndrome de Cockayne:
Patrón de herencia autosómico recesivo con prevalencia 1/1.000.000. Edad de aparición variable con síntomas como fotosensibilidad
y sequedad cutánea y desarrollo de cáncer de piel.
ARSE
Condrodisplasia punctata braquitelefalángica
LXR
DESCRIPCIÓN Condrodisplasia punctata braquitelefalángica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX7
Condrodisplasia Puntacta Rizomélica, tipo 1
AR
DESCRIPCIÓN Condrodisplasia Puntacta Rizomélica, tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AGPS
Acidemia glutárica, tipo I (GCDH)
AR
DESCRIPCIÓN Acidemia glutárica, tipo I (GCDH):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX5
Condrodisplasia Puntacta Rizomélica, tipo 5
AR
DESCRIPCIÓN Condrodisplasia Puntacta Rizomélica, tipo 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PTH1R
Condrodisplasia tipo Blomstrand
AR
DESCRIPCIÓN Condrodisplasia tipo Blomstrand:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FBLN5
Cutis laxa autosómica recesiva, tipo IA
AR
DESCRIPCIÓN Cutis laxa autosómica recesiva, tipo IA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
EFEMP2
Cutis laxa autosómica recesiva, tipo IB
AR
DESCRIPCIÓN Cutis laxa autosómica recesiva, tipo IB:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATP6V0A2
Cutis laxa autosómica recesiva, tipo IIA
AR
DESCRIPCIÓN Cutis laxa autosómica recesiva, tipo IIA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AMACR
Defecto congénito en la síntesis de ácidos biliares 4
AR
DESCRIPCIÓN Defecto congénito en la síntesis de ácidos biliares 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ZIC3
Defectos congénitos cardíacos, no sindrómicos, ligados al X 1
LXR
DESCRIPCIÓN Defectos congénitos cardíacos, no sindrómicos, ligados al X 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BTK
Deficiencia aislada de hormona de crecim. tipo III (con hipogammaglobulinemia)
LXR
DESCRIPCIÓN Deficiencia aislada de hormona de crecim. tipo III (con hipogammaglobulinemia):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TSHB
Deficiencia aislada de la hormona estimulante de la tiroides (TSH)
AR
DESCRIPCIÓN Deficiencia aislada de la hormona estimulante de la tiroides (TSH):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PROP1
Deficiencia combinada de hormona pituitaria 2
AR
DESCRIPCIÓN Deficiencia combinada de hormona pituitaria 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LHX3
Deficiencia combinada de hormona pituitaria 3
AR
DESCRIPCIÓN Deficiencia combinada de hormona pituitaria 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GFM1
Deficiencia combinada de la fosforilación oxidativa 1
AR
DESCRIPCIÓN Deficiencia combinada de la fosforilación oxidativa 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MRPS16
Deficiencia combinada de la fosforilación oxidativa 2
AR
DESCRIPCIÓN Deficiencia combinada de la fosforilación oxidativa 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TSFM
Deficiencia combinada de la fosforilación oxidativa 3
AR
DESCRIPCIÓN Deficiencia combinada de la fosforilación oxidativa 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MRPS22
Deficiencia combinada de la fosforilación oxidativa 5
AR
DESCRIPCIÓN Deficiencia combinada de la fosforilación oxidativa 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PSAP
Deficiencia combinada de prosaposina
AR
DESCRIPCIÓN Deficiencia combinada de prosaposina:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HIBCH
Deficiencia de 3-hidroxisobutiril-CoA-hidrolasa
AR
DESCRIPCIÓN Deficiencia de 3-hidroxisobutiril-CoA-hidrolasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CYP17A1
Deficiencia de 17-alfa-hidroxilasa
AR
DESCRIPCIÓN Deficiencia de 17-alfa-hidroxilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HSD17B3
Deficiencia de 17-beta-hidroxiesteroide deshidrogenasa
AR
DESCRIPCIÓN Deficiencia de 17-beta-hidroxiesteroide deshidrogenasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HSD3B2
Deficiencia de 3-beta-hidroxiesteroide deshidrogenasa
AR
DESCRIPCIÓN Deficiencia de 3-beta-hidroxiesteroide deshidrogenasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HADH
Deficiencia de 3-hidroxiacil-CoA deshidrogenasa
AR
DESCRIPCIÓN Deficiencia de 3-hidroxiacil-CoA deshidrogenasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HADHA
Deficiencia de 3-Hidroxiacil-CoA deshidrogenasa de cadena larga
AR
DESCRIPCIÓN Deficiencia de 3-Hidroxiacil-CoA deshidrogenasa de cadena larga:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SRD5A2
Deficiencia de 5-Alfa Reductasa
AR
DESCRIPCIÓN Deficiencia de 5-Alfa Reductasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ACOX1
Deficiencia de acil CoA oxidasa peroxisomal
AR
DESCRIPCIÓN Deficiencia de acil CoA oxidasa peroxisomal:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ACADL
Deficiencia de acil-CoA deshidrogenasa de cadena larga
AR
DESCRIPCIÓN Deficiencia de acil-CoA deshidrogenasa de cadena larga:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ACADM
Deficiencia de acil-CoA deshidrogenasa de cadena media
AR
DESCRIPCIÓN Deficiencia de acil-CoA deshidrogenasa de cadena media:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ACADVL
Deficiencia de acil-CoA deshidrogenasa de cadena muy larga
AR
DESCRIPCIÓN Deficiencia de acil-CoA deshidrogenasa de cadena muy larga:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ADA
Deficiencia de adenosina deaminasa
AR
DESCRIPCIÓN Deficiencia de adenosina deaminasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FERMT3
Deficiencia de adhesión de leucocitos, tipo III
AR
DESCRIPCIÓN Deficiencia de adhesión de leucocitos, tipo III:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AMACR
Deficiencia de alfa-metilacil-CoA racemasa
AR
DESCRIPCIÓN Deficiencia de alfa-metilacil-CoA racemasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ASL
Deficiencia de argininosuccinato liasa
AR
DESCRIPCIÓN Deficiencia de argininosuccinato liasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DS
Deficiencia de beta-cetiotilasa
AR
DESCRIPCIÓN Deficiencia de beta-cetiotilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BTD
Deficiencia de biotinidasa
AR
DESCRIPCIÓN Deficiencia de biotinidasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CPS1
Deficiencia de carbamoil-fosfato sintetasa I
AR
p>
DESCRIPCIÓN Deficiencia de carbamoil-fosfato sintetasa I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CPT1A
Deficiencia de carnitina palmitoiltransferasa IA
AR
DESCRIPCIÓN Deficiencia de carnitina palmitoiltransferasa IA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CPT2
Deficiencia de carnitina palmitoiltransferasa II
AR
DESCRIPCIÓN Deficiencia de carnitina palmitoiltransferasa II:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC25A20
Deficiencia de carnitina-acilcarnitina transferasa
AR
DESCRIPCIÓN Deficiencia de carnitina-acilcarnitina transferasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DPYD
Deficiencia de dihidropirimidina deshidrogenasa
AR
DESCRIPCIÓN Deficiencia de dihidropirimidina deshidrogenasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
F9
Deficiencia de Factor IX (Hemofilia B)
LXR
DESCRIPCIÓN Deficiencia de Factor IX (Hemofilia B):
Patrón de herencia ligado al X, con prevalencia 1/5000. Edad de aparición neonatal infantil con hemorragias espontáneas por
déficit de factor 9.
F8
Deficiencia de Factor VIII (Hemofilia A)
LXR
DESCRIPCIÓN Deficiencia de Factor VIII (Hemofilia A):
Patrón de herencia ligado al X, con prevalencia 1/5000. Edad de aparición neonatal infantil con hemorragias espontáneas por
déficit de factor 8.
FH
Deficiencia de Fumarasa
AR
DESCRIPCIÓN Deficiencia de Fumarasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GALK1
Deficiencia de Galactoquinasa
AR
DESCRIPCIÓN Deficiencia de Galactoquinasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
G6PD
Deficiencia de glucosa-6-fosfato deshidrogenasa
LRX
DESCRIPCIÓN Deficiencia de glucosa-6-fosfato deshidrogenasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GSS
Deficiencia de glutatión sintetasa
AR
DESCRIPCIÓN Deficiencia de glutatión sintetasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GAMT
Deficiencia de guanidinoacetato metiltransferasa
AR
DESCRIPCIÓN Deficiencia de guanidinoacetato metiltransferasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HMGCL
Deficiencia de HMG-CoA liasa
AR
DESCRIPCIÓN Deficiencia de HMG-CoA liasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HLCS
Deficiencia de holocarboxilasa sintetasa
AR
DESCRIPCIÓN Deficiencia de holocarboxilasa sintetasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DDC
Deficiencia de L-aminoácido aromático descarboxilasa
AR
DESCRIPCIÓN Deficiencia de L-aminoácido aromático descarboxilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NAGS
Deficiencia de N-acetilglutamato sintasa
AR
DESCRIPCIÓN Deficiencia de N-acetilglutamato sintasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OTC
Deficiencia de ornitina transcarbamilasa
LXR
DESCRIPCIÓN Deficiencia de ornitina transcarbamilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC25A15
Deficiencia de ornitina translocasa
AR
DESCRIPCIÓN Deficiencia de ornitina translocasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PNPO
Deficiencia de piridoxamina 5'-fosfato oxidasa
AR
DESCRIPCIÓN Deficiencia de piridoxamina 5'-fosfato oxidasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PC
Deficiencia de piruvato carboxilasa
AR
DESCRIPCIÓN Deficiencia de piruvato carboxilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PDP1
Deficiencia de piruvato deshidrogenasa fosfatasa
AR
DESCRIPCIÓN Deficiencia de piruvato deshidrogenasa fosfatasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PDHA1
Deficiencia de piruvato deshidrogenasa, ligada al X
LXR
DESCRIPCIÓN Deficiencia de piruvato deshidrogenasa, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PKLR
Deficiencia de piruvato quinasa
AR
DESCRIPCIÓN Deficiencia de piruvato quinasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLG
Deficiencia de plasminógeno, tipo I
AR
DESCRIPCIÓN Deficiencia de plasminógeno, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC22A5
Deficiencia primaria de carnitina
AR
DESCRIPCIÓN Deficiencia primaria de carnitina:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CFP
Deficiencia de properdina, ligada al X
LXR
DESCRIPCIÓN Deficiencia de properdina, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HSD17B4
Deficiencia de proteína D-bifuncional
AR
DESCRIPCIÓN Deficiencia de proteína D-bifuncional:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HADHA
Deficiencia de proteínas trifuncionales
AR
DESCRIPCIÓN Deficiencia de proteínas trifuncionales:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALDH5A1
Deficiencia de semialdehído succínico deshidrogenasa
AR
DESCRIPCIÓN Deficiencia de semialdehído succínico deshidrogenasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SUOX
Deficiencia de sulfito oxidasa
AR
DESCRIPCIÓN Deficiencia de sulfito oxidasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TH
Deficiencia de tirosina hidroxilasa
AR
DESCRIPCIÓN Deficiencia de tirosina hidroxilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC6A8
Deficiencia de transportador de creatina, ligada al X
LXR
DESCRIPCIÓN Deficiencia de transportador de creatina, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IL1RN
Deficiencia del antagonista del receptor de interleuquina 1
AR
DESCRIPCIÓN Deficiencia del antagonista del receptor de interleuquina 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MOCS1
Deficiencia del cofactor molibdeno A
AR
DESCRIPCIÓN Deficiencia del cofactor molibdeno A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MOCS2
Deficiencia del cofactor molibdeno B
AR
DESCRIPCIÓN Deficiencia del cofactor molibdeno B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ACAD9
Deficiencia del complejo mitocondrial I (debido a deficiencia de acil-CoA deshidrogenasa-9)
AR
DESCRIPCIÓN Deficiencia del complejo mitocondrial I (debido a deficiencia de acil-CoA deshidrogenasa-9):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BCS1L
Deficiencia del complejo mitocondrial III tipo 1
AR
DESCRIPCIÓN Deficiencia del complejo mitocondrial III tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
UQCRB
Deficiencia del complejo mitocondrial III tipo 3
AR
DESCRIPCIÓN Deficiencia del complejo mitocondrial III tipo 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
UQCRQ
Deficiencia del complejo mitocondrial III tipo 4
AR
DESCRIPCIÓN Deficiencia del complejo mitocondrial III tipo 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COX10
Deficiencia del complejo mitocondrial IV: Relacionada con COX10
Mi, AR
DESCRIPCIÓN Deficiencia del complejo mitocondrial IV: Relacionada con COX10:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COX6B1
Deficiencia del complejo mitocondrial IV: Relacionada con COX6B1
Mi, AR
DESCRIPCIÓN Deficiencia del complejo mitocondrial IV: Relacionada con COX6B1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FASTKD2
Deficiencia del complejo mitocondrial IV: Relacionada con FASTKD2
Mi, AR
DESCRIPCIÓN Deficiencia del complejo mitocondrial IV: Relacionada con FASTKD2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SCO1
Deficiencia del complejo mitocondrial IV: Relacionada con SCO1
Mi, AR
DESCRIPCIÓN Deficiencia del complejo mitocondrial IV: Relacionada con SCO1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COQ2
Deficiencia primaria de coenzima Q10 1
AR
DESCRIPCIÓN Deficiencia primaria de coenzima Q10 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PDSS1
Deficiencia primaria de coenzima Q10 2
AR
DESCRIPCIÓN Deficiencia primaria de coenzima Q10 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PDSS2
Deficiencia primaria de coenzima Q10 3
AR
DESCRIPCIÓN Deficiencia primaria de coenzima Q10 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ADCK3
Deficiencia primaria de coenzima Q10 4
AR
DESCRIPCIÓN Deficiencia primaria de coenzima Q10 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COQ9
Deficiencia primaria de coenzima Q10 5
AR
DESCRIPCIÓN Deficiencia primaria de coenzima Q10 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
WNT7A
Deficiencia severa del miembro con ausencia de cubito y peroné
AR
DESCRIPCIÓN Deficiencia severa del miembro con ausencia de cubito y peroné:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NUP62
Degeneración estriatonigral infantil
AR
DESCRIPCIÓN Degeneración estriatonigral infantil:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LMNA
Dermopatía restrictiva letal: Relacionado con LMNA
AR
DESCRIPCIÓN Dermopatía restrictiva letal: Relacionado con LMNA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ZMPSTE24
Dermopatía restrictiva letal: Relacionado con ZMPSTE24
AR
DESCRIPCIÓN Dermopatía restrictiva letal: Relacionado con ZMPSTE24:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry
DHCR24
Desmosterolosis
AR
DESCRIPCIÓN Desmosterolosis:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ABCC8
Diabetes neonatal permanente, forma recesiva
AR
DESCRIPCIÓN Diabetes neonatal permanente, forma recesiva:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NEUROG3
Diarrea congénita con malabsorción (Anendocrinosis entérica)
AR
DESCRIPCIÓN Diarrea congénita con malabsorción (Anendocrinosis entérica):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IKBKAP
Disautonomía familiar
AR
DESCRIPCIÓN Disautonomía familiar:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMA2
Disfrofia muscular congénita por deficiencia de merosina
AR
DESCRIPCIÓN Disfrofia muscular congénita por deficiencia de merosina:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ABCA3
Disfunción del metabolismo del surfactante pulmonar
AR
DESCRIPCIÓN Disfunción del metabolismo del surfactante pulmonar:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
L1CAM
Disgenesia de cuerpo calloso
LXR
DESCRIPCIÓN Disgenesia de cuerpo calloso:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DLL3
Disostosis espondilocostal, autosómica recesiva 1
AR
DESCRIPCIÓN Disostosis espondilocostal, autosómica recesiva 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RMRP
Displasia anauxética
AR
DESCRIPCIÓN Displasia anauxética:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC35D1
Displasia de Schneckenbecken
AR
DESCRIPCIÓN Displasia de Schneckenbecken:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC26A2
Displasia diastrófica
AR
DESCRIPCIÓN Displasia diastrófica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HSPG2
Displasia disegmentaria tipo Silverman Handmaker
AR
DESCRIPCIÓN Displasia disegmentaria tipo Silverman Handmaker:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC26A2
Displasia epifisaria múltiple tipo 4
AR
DESCRIPCIÓN Displasia epifisaria múltiple tipo 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LBR
Displasia esquelética de Greenberg
AR
DESCRIPCIÓN Displasia esquelética de Greenberg:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ADAMTSL2
Displasia geleofísica 1
AR
DESCRIPCIÓN Displasia geleofísica 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
EDA
Displasia hipohidrótica ectodermal, ligada al X
LXR
DESCRIPCIÓN Displasia hipohidrótica ectodermal, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LMNA
Displasia mandíbuloacra con lipodistrofia tipo A
AR
DESCRIPCIÓN Displasia mandíbuloacra con lipodistrofia tipo A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ZMPSTE24
Displasia mandíbuloacra con lipodistrofia tipo B
AR
DESCRIPCIÓN Displasia mandíbuloacra con lipodistrofia tipo B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RMRP
Displasia metafisaria sin hipotricosis
AR
DESCRIPCIÓN Displasia metafisaria sin hipotricosis:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
WNT10A
Displasia odontoónicodérmica
AR
DESCRIPCIÓN Displasia odontoónicodérmica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHP3
Displasia renal-hepática-pancreática 1
AR
DESCRIPCIÓN Displasia renal-hepática-pancreática 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DKC1
Disqueratosis congénita, ligada al X
LXR
DESCRIPCIÓN Disqueratosis congénita, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL6A3
Distonía primaria tipo DYT27
AR
DESCRIPCIÓN Distonía primaria tipo DYT27:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC4A11
Distrofia corneal y sordera perceptiva
AR
DESCRIPCIÓN Distrofia corneal y sordera perceptiva:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC4A11
Distrofia endotelial corneal
AR
DESCRIPCIÓN Distrofia endotelial corneal:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MFSD8
Distrofia macular con compromiso de cono central
AR
DESCRIPCIÓN Distrofia macular con compromiso de cono central:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMGNT1
Distrofia muscular congénita - Distroglicanopatía (con anomalías cereblales y de oculares), tipo
A3
AR
DESCRIPCIÓN Distrofia muscular congénita - Distroglicanopatía (con anomalías cereblales y
de oculares), tipo A3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FKRP
Distrofia muscular congénita - Distroglicanopatía (con anomalías cereblales y de oculares), tipo
A5
AR
DESCRIPCIÓN Distrofia muscular congénita - Distroglicanopatía (con anomalías cereblales y
de oculares), tipo A5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMT1
Distrofia muscular congénita - Distroglicanopatía (con anomalías cerebrales y oculares), tipo
A1
AR
DESCRIPCIÓN Distrofia muscular congénita - Distroglicanopatía (con anomalías cerebrales y
oculares), tipo A1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMT2
Distrofia muscular congénita - Distroglicanopatía (con anomalías cerebrales y oculares), tipo
A2
AR
DESCRIPCIÓN Distrofia muscular congénita - Distroglicanopatía (con anomalías cerebrales y
oculares), tipo A2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMT1
Distrofia muscular congénita - Distroglicanopatía (con deficiencia intelectual), tipo B1
AR
DESCRIPCIÓN Distrofia muscular congénita - Distroglicanopatía (con deficiencia intelectual),
tipo B1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMT2
Distrofia muscular congénita - Distroglicanopatía (con deficiencia intelectual), tipo B2
AR
DESCRIPCIÓN Distrofia muscular congénita - Distroglicanopatía (con deficiencia intelectual),
tipo B2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FKRP
Distrofia muscular congénita - Distroglicanopatía (con o sin deficiencia intelectual), tipo B5
AR
DESCRIPCIÓN Distrofia muscular congénita - Distroglicanopatía (con o sin deficiencia intelectual),
tipo B5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FKNT
Distrofia muscular congénita - Distroglicanopatía (sin deficiencia intelectual) tipo B4
AR
DESCRIPCIÓN Distrofia muscular congénita - Distroglicanopatía (sin deficiencia intelectual)
tipo B4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMA2
Distrofia muscular congénita por deficiencia parcial de LAMA2
AR
DESCRIPCIÓN Distrofia muscular congénita por deficiencia parcial de LAMA2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DMD
Distrofia muscular de Becker
LXR
DESCRIPCIÓN Distrofia muscular de Becker:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLEC
Distrofia muscular de cintura, tipo 2Q
AR
DESCRIPCIÓN Distrofia muscular de cintura, tipo 2Q:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMT1
Distrofia muscular de cintura, tipo C1
AR
DESCRIPCIÓN Distrofia muscular de cintura, tipo C1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMT2
Distrofia muscular de cintura, tipo C2
AR
DESCRIPCIÓN Distrofia muscular de cintura, tipo C2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMGNT1
Distrofia muscular de cintura, tipo C3
AR
DESCRIPCIÓN Distrofia muscular de cintura, tipo C3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FKTN
Distrofia muscular de cintura, tipo C4
AR
DESCRIPCIÓN Distrofia muscular de cintura, tipo C4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FKRP
Distrofia muscular de cintura, tipo C5
AR
DESCRIPCIÓN Distrofia muscular de cintura, tipo C5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SEPN1
Distrofia muscular de columna vertebral rígida 1
AR
DESCRIPCIÓN Distrofia muscular de columna vertebral rígida 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DMD
Distrofia Muscular de Duchenne
LXR
DESCRIPCIÓN Distrofia Muscular de Duchenne:
Patrón de herencia ligado al X con prevalencia 1/16.000-125.000. La edad de aparición es infantil con atrofia y debilidad
muscular progresiva por degeneración muscular.
LMNA
Distrofia muscular de Emery-Dreifuss autosómica recesiva
AR
DESCRIPCIÓN Distrofia muscular de Emery-Dreifuss autosómica recesiva:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLA2G6
Distrofia neuroaxonal infantil
AR
DESCRIPCIÓN Distrofia neuroaxonal infantil:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IFT80
Distrofia torácica asfixiante tipo 2
AR
DESCRIPCIÓN Distrofia torácica asfixiante tipo 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DYNC2H1
Distrofia torácica asfixiante tipo 3
AR, DR
DESCRIPCIÓN Distrofia torácica asfixiante tipo 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TRIM37
Enanismo Mulibrey
AR
DESCRIPCIÓN Enanismo Mulibrey:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ARX
Encefalopatía epiléptica infantil temprana 1
LXR
DESCRIPCIÓN Encefalopatía epiléptica infantil temprana 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ST3GAL3
Encefalopatía epiléptica infantil temprana 15
AR
DESCRIPCIÓN Encefalopatía epiléptica infantil temprana 15:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC25A22
Encefalopatía epiléptica infantil temprana 3
AR
DESCRIPCIÓN Encefalopatía epiléptica infantil temprana 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ARHGEF9
Encefalopatía epiléptica infantil temprana 8
LXR
DESCRIPCIÓN Encefalopatía epiléptica infantil temprana 8:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AMT
Encefalopatía glicínica: Relacionada con AMT
AR
DESCRIPCIÓN Encefalopatía glicínica: Relacionada con AMT:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GCSH
Encefalopatía glicínica: Relacionada con GCSH
AR
DESCRIPCIÓN Encefalopatía glicínica: Relacionada con GCSH:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GLDC
Encefalopatía glicínica: Relacionada con GLDC
AR
DESCRIPCIÓN Encefalopatía glicínica: Relacionada con GLDC:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MECP2
Encefalopatía neonatal severa
LXR
DESCRIPCIÓN Encefalopatía neonatal severa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GBE1
Enfermedad con cuerpos de poliglucosano del adulto
AR
DESCRIPCIÓN Enfermedad con cuerpos de poliglucosano del adulto:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATP7A
Enfermedad de Menkes
LXR
DESCRIPCIÓN Enfermedad de Menkes:
Patrón de herencia ligado al X con prevalencia 1/100.000. La edad de aparición es neonatal infantil con síntomas como microcefalia
y degeneración neurológica por déficit en la absorción de cobre.
G6PC
Enfermedad de almacenamiento de glucógeno, tipo IA
AR
DESCRIPCIÓN Enfermedad de almacenamiento de glucógeno, tipo IA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC37A4
Enfermedad de almacenamiento de glucógeno, tipo IB
AR
DESCRIPCIÓN Enfermedad de almacenamiento de glucógeno, tipo IB:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC37A4
Enfermedad de almacenamiento de glucógeno, tipo IC
AR
DESCRIPCIÓN Enfermedad de almacenamiento de glucógeno, tipo IC:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GAA
Enfermedad de almacenamiento de glucógeno, tipo II
AR
DESCRIPCIÓN Enfermedad de almacenamiento de glucógeno, tipo II:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AGL
Enfermedad de almacenamiento de glucógeno, tipo III
AR
DESCRIPCIÓN Enfermedad de almacenamiento de glucógeno, tipo III:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GBE1
Enfermedad de almacenamiento de glucógeno, tipo IV
AR
DESCRIPCIÓN Enfermedad de almacenamiento de glucógeno, tipo IV:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PYGM
Enfermedad de almacenamiento de glucógeno, tipo V
AR
DESCRIPCIÓN Enfermedad de almacenamiento de glucógeno, tipo V:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ASPA
Enfermedad de Canavan
AR
DESCRIPCIÓN Acidemia glutárica, tipo I (GCDH):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GDAP1
Enfermedad de Charcot-Marie-Tooth intermedio autosómica recesiva A
AR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth intermedio autosómica recesiva A:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
PLEKHG5
Enfermedad de Charcot-Marie-Tooth intermedio autosómica recesiva C
AR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth intermedio autosómica recesiva C:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
IGHMBP2>
Enfermedad de Charcot-Marie-Tooth axonal, tipo 2S
AR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth axonal, tipo 2S:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
GDAP1
Enfermedad de Charcot-Marie-Tooth con parálisis de las cuerdas vocales
AR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth con parálisis de las cuerdas vocales:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
PRPS1
Enfermedad de Charcot-Marie-Tooth con sordera, ligada al X, 5
LXR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth con sordera, ligada al X, 5:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
LMNA
Enfermedad de Charcot-Marie-Tooth, tipo 2B1
AR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth, tipo 2B1:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
GDAP1
Enfermedad de Charcot-Marie-Tooth, tipo 4A
AR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth, tipo 4A:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
PRX
Enfermedad de Charcot-Marie-Tooth, tipo 4F
AR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth, tipo 4F:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
FGD4
Enfermedad de Charcot-Marie-Tooth, tipo 4H
AR
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth, tipo 4H:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
SURF1
Enfermedad de Charcot-Marie-Tooth, tipo 4K
AR2
DESCRIPCIÓN Enfermedad de Charcot-Marie-Tooth, tipo 4K:
Patrón de herencia autosómica recesiva con prevalencia 15-20/100.000. La edad de aparición es neonatal/infantil con síntomas
como debilidad muscular distal y pérdida de sensibilidad.
CLCN5
Enfermedad de Dent 1
LXR
DESCRIPCIÓN Enfermedad de Dent 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OCRL
Enfermedad de Dent 2
LXR
DESCRIPCIÓN Enfermedad de Dent 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GLA
Enfermedad de Fabry
LXR
DESCRIPCIÓN Enfermedad de Fabry:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GBA>
Enfermedad de Gaucher
AR
DESCRIPCIÓN Enfermedad de Gaucher:
Patrón de herencia autosómico recesivo con prevalencia 1/100.000. Edad de aparición variable con hepatoesplenomegalia, anemia,
trombocitopenia y enfermedad neurológica.
AR
Enfermedad de Kennedy
LXR
DESCRIPCIÓN Enfermedad de Kennedy:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PSAP
Enfermedad de Krabbe atípica
AR
DESCRIPCIÓN Enfermedad de Krabbe atípica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SMPD1
Enfermedad de Niemann-Pick, tipo A
AR
DESCRIPCIÓN Enfermedad de Niemann-Pick, tipo A:
Patrón de herencia autosómico recesivo con prevalencia 1/130.000. Edad de aparición variable con hepatoesplenomegalia y discapacidad
neurológica progresiva.
SMPD1
Enfermedad de Niemann-Pick, tipo B
AR
DESCRIPCIÓN Enfermedad de Niemann-Pick, tipo B:
Patrón de herencia autosómico recesivo con prevalencia 1/130.000. Edad de aparición variable con hepatoesplenomegalia y discapacidad
neurológica progresiva.
NPC1
Enfermedad de Niemann-Pick, tipo C1
AR
DESCRIPCIÓN Enfermedad de Niemann-Pick, tipo C1:
Patrón de herencia autosómico recesivo con prevalencia 1/130.000. Edad de aparición variable con hepatoesplenomegalia y discapacidad
neurológica progresiva.
NPC2
Enfermedad de Niemann-Pick, tipo C2
AR
DESCRIPCIÓN Enfermedad de Niemann-Pick, tipo C2:
Patrón de herencia autosómico recesivo con prevalencia 1/130.000. Edad de aparición variable con hepatoesplenomegalia y discapacidad
neurológica progresiva.
NPC1
Enfermedad de Niemann-Pick, tipo D
AR
DESCRIPCIÓN Enfermedad de Niemann-Pick, tipo D:
Patrón de herencia autosómico recesivo con prevalencia 1/130.000. Edad de aparición variable con hepatoesplenomegalia y discapacidad
neurológica progresiva.
NDP
Enfermedad de Norrie
LXR
DESCRIPCIÓN Enfermedad de Norrie:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BCKDHA
Enfermedad de Orina de Jarabe de Arce, tipo 1A
AR
DESCRIPCIÓN Enfermedad de Orina de Jarabe de Arce, tipo 1A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BCKDHB
Enfermedad de Orina de Jarabe de Arce, tipo 1B
AR
DESCRIPCIÓN Enfermedad de Orina de Jarabe de Arce, tipo 1B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DBT
Enfermedad de Orina de Jarabe de Arce, tipo 2
AR
DESCRIPCIÓN Enfermedad de Orina de Jarabe de Arce, tipo 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DLD
Enfermedad de Orina de Jarabe de Arce, tipo 3
AR
DESCRIPCIÓN Enfermedad de Orina de Jarabe de Arce, tipo 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLA2G6
Enfermedad de Parkinson, autosómica recesiva 14
AR
DESCRIPCIÓN Enfermedad de Parkinson, autosómica recesiva 14:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLP1
Enfermedad de Pelizaeus-Merzbacher
LXR
DESCRIPCIÓN Enfermedad de Pelizaeus-Merzbacher:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC17A5
Enfermedad de Salla
AR
DESCRIPCIÓN Enfermedad de Salla:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HEXB
Enfermedad de Sandhoff
AR
DESCRIPCIÓN Enfermedad de Sandhoff:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HEXA
Enfermedad de Tay-Sachs
AR
DESCRIPCIÓN Enfermedad de Tay-Sachs:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATP7B
Enfermedad de Wilson
AR
DESCRIPCIÓN Enfermedad de Wilson:
Patrón de herencia autosómico recesivo con prevalencia 1/10.000-30.000. La edad de aparición es infantil. La acumulación
tóxica de cobre afecta el hígado y el sistema nervioso central.
SLC17A5
Enfermedad infantil de almacenamiento de ácido siálico
AR
DESCRIPCIÓN Enfermedad infantil de almacenamiento de ácido siálico:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TNFRSF11B
Enfermedad ósea de Paget de inicio juvenil 5
AR
DESCRIPCIÓN Enfermedad ósea de Paget de inicio juvenil 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DESCRIPCIÓN Enfermedad poliquística renal, autosómica recesiva
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SFTPB
Enfermedad pulmonar por deficiencia de proteina surfactante B
AR
DESCRIPCIÓN Enfermedad pulmonar por deficiencia de proteina surfactante B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SP110
Enfermedad veno-oclusiva hepática con inmunodeficiencia
AR
DESCRIPCIÓN Enfermedad veno-oclusiva hepática con inmunodeficiencia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DSP
Epidermólisis bullosa acantolítica letal
AR
DESCRIPCIÓN Epidermólisis bullosa acantolítica letal:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMA3
Epidermólisis bullosa atrófica generalizada benigna: Relacionada con LAMA3
AR
DESCRIPCIÓN Epidermólisis bullosa atrófica generalizada benigna: Relacionada con LAMA3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL7A
Epidermólisis bullosa distrófica recesiva
AR
DESCRIPCIÓN Epidermólisis bullosa distrófica recesiva:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ITGA6
Epidermólisis bullosa juntural con atresia pilórica: Relacionada con ITGA6
AR
DESCRIPCIÓN Epidermólisis bullosa juntural con atresia pilórica: Relacionada con ITGA6:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ITGB4
Epidermólisis bullosa juntural con atresia pilórica: Relacionada con ITGB4
AR
DESCRIPCIÓN Epidermólisis bullosa juntural con atresia pilórica: Relacionada con ITGB4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMA3
Epidermólisis bullosa juntural de tipo Herlitz: Relacionada con LAMA3
AR
DESCRIPCIÓN Epidermólisis bullosa juntural de tipo Herlitz: Relacionada con LAMA3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMB3
Epidermólisis bullosa juntural de tipo Herlitz: Relacionada con LAMB3
AR
DESCRIPCIÓN Epidermólisis bullosa juntural de tipo Herlitz: Relacionada con LAMB3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMC2
Epidermólisis bullosa juntural de tipo Herlitz: Relacionada con LAMC2
AR
DESCRIPCIÓN Epidermólisis bullosa juntural de tipo Herlitz: Relacionada con LAMC2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL17A1
Epidermólisis bullosa juntural de tipo no Herlitz: Relacionada con COL17A1
AR
DESCRIPCIÓN Epidermólisis bullosa juntural de tipo no Herlitz: Relacionada con COL17A1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ITGB4
Epidermólisis bullosa juntural de tipo no Herlitz: Relacionada con ITGB4
AR
DESCRIPCIÓN Epidermólisis bullosa juntural de tipo no Herlitz: Relacionada con ITGB4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMB3
Epidermólisis bullosa juntural de tipo no Herlitz: Relacionada con LAMB3
AR
DESCRIPCIÓN Epidermólisis bullosa juntural de tipo no Herlitz: Relacionada con LAMB3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMC2
Epidermólisis bullosa juntural de tipo no Herlitz: Relacionada con LAMC2
AR
DESCRIPCIÓN Epidermólisis bullosa juntural de tipo no Herlitz: Relacionada con LAMC2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL17A1
Epidermólisis bullosa juntural, variante localizada
AR
DESCRIPCIÓN Epidermólisis bullosa juntural, variante localizada:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLEC
Epidermólisis bullosa simple con atresia pilórica
AR
DESCRIPCIÓN Epidermólisis bullosa simple con atresia pilórica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLEC
Epidermólisis bullosa simple con distrofia muscular
AR
DESCRIPCIÓN Epidermólisis bullosa simple con distrofia muscular:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLEC
Epidermólisis bullosa simple con distrofia ungueal
AR
DESCRIPCIÓN Epidermólisis bullosa simple con distrofia ungueal:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALDH7A1
Epilepsia dependiente de piridoxina
AR
DESCRIPCIÓN Epilepsia dependiente de piridoxina:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CSTB
Epilepsia mioclónica progresiva 1A (Enfermedad de Unverricht-Lundborg)
AR
DESCRIPCIÓN Epilepsia mioclónica progresiva 1A (Enfermedad de Unverricht-Lundborg):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
EPM2A
Epilepsia mioclónica progresiva 2A (Enfermedad de Lafora)
AR
DESCRIPCIÓN Epilepsia mioclónica progresiva 2A (Enfermedad de Lafora):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NHLRC1
Epilepsia mioclónica progresiva 2B (Enfermedad de Lafora)
AR
DESCRIPCIÓN Epilepsia mioclónica progresiva 2B (Enfermedad de Lafora):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALS2
Esclerosis lateral amiotrófica juvenil 2
AR (AD-AR)
DESCRIPCIÓN Esclerosis lateral amiotrófica juvenil 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALS2
Esclerosis lateral primaria juvenil
AR
DESCRIPCIÓN Esclerosis lateral primaria juvenil:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NR5A1
Falla espermática 8
AR
DESCRIPCIÓN Falla espermática 8:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PAH
Fenilcetonuria (Deficiencia de fenilalanina hidroxilasa)
AR
DESCRIPCIÓN Fenilcetonuria (Deficiencia de fenilalanina hidroxilasa):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CFTR
Fibrosis quística
AR
DESCRIPCIÓN Fibrosis quística:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MEFV
Fiebre mediterránea familiar
AR
DESCRIPCIÓN Fiebre mediterránea familiar:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FUCA1
Fucosidosis
AR
DESCRIPCIÓN Fucosidosis:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GALT
Galactosemia clásica
AR
DESCRIPCIÓN Galactosemia clásica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GLB1
Gangliosidosis GM1
AR
DESCRIPCIÓN Gangliosidosis GM1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HFE2
Hemocromatosis tipo 2A: Relacionada con HFE2
AR
DESCRIPCIÓN Hemocromatosis tipo 2A: Relacionada con HFE2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HBB
Hemoglobinopatía: Hb C
AR
DESCRIPCIÓN Hemoglobinopatía: Hb C:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HBB
Hemoglobinopatía: Hb D
AR
DESCRIPCIÓN Hemoglobinopatía: Hb D:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HBB
Hemoglobinopatía: Hb E
AR
DESCRIPCIÓN Hemoglobinopatía: Hb E:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HBB
Hemoglobinopatía: Hb O
AR
DESCRIPCIÓN Hemoglobinopatía: Hb O:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ZIC3
Heterotaxia visceral 1, ligado al X
LXR
DESCRIPCIÓN Heterotaxia visceral 1, ligado al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
L1CAM
Hidrocefalia con Enfermedad de Hirschsprung
LXR
DESCRIPCIÓN Hidrocefalia con Enfermedad de Hirschsprung:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
L1CAM
Hidrocefalia con pseudoobstrucción intestinal congénita idiopática
LXR
DESCRIPCIÓN Hidrocefalia con pseudoobstrucción intestinal congénita idiopática:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
L1CAM
Hidrocefalia por estenosis del acueducto
LXR
DESCRIPCIÓN Hidrocefalia por estenosis del acueducto:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PRPS1
Hiperactividad de la fosforribosilpirofosfato-sintetasa
LXR
DESCRIPCIÓN Hiperactividad de la fosforribosilpirofosfato-sintetasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ABCC8
Hiperinsulinismo Familiar tipo 1: Relacionado con ABCC8
AR
DESCRIPCIÓN Hiperinsulinismo Familiar tipo 1: Relacionado con ABCC8:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CYP21A2
Hiperplasia adrenal congénita clásica por deficiencia de 21-hidroxilasa
AR
DESCRIPCIÓN Hiperplasia adrenal congénita clásica por deficiencia de 21-hidroxilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CYP21A2
Hiperplasia adrenal congénita no clásica por deficiencia de 21-hidroxilasa
AR
DESCRIPCIÓN Hiperplasia adrenal congénita no clásica por deficiencia de 21-hidroxilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CYP11B1
Hiperplasia adrenal congénita por deficiencia de 11-beta-hidroxilasa
AR
DESCRIPCIÓN Hiperplasia adrenal congénita por deficiencia de 11-beta-hidroxilasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
STAR
Hiperplasia adrenal lipoide congénita
AR
DESCRIPCIÓN Hiperplasia adrenal lipoide congénita:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DGUOK
Hipertensión portal no cirrótica
AR
DESCRIPCIÓN Hipertensión portal no cirrótica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALPL
Hipofosfatasia
AR
DESCRIPCIÓN Hipofosfatasia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HADH
Hipoglucemia hiperinsulinémica familiar 4
AR
DESCRIPCIÓN Hipoglucemia hiperinsulinémica familiar 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GNRHR
Hipogonadismo hipogonadotrópico sin anosmia
AR
DESCRIPCIÓN Hipogonadismo hipogonadotrópico sin anosmia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLDN19
Hipomagnesemia familiar con hipercalciuria, nefrocalcinosis y afectación ocular grave
AR
DESCRIPCIÓN Hipomagnesemia familiar con hipercalciuria, nefrocalcinosis y afectación ocular
grave:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RMRP
Hipoplasia de cartílago-pelo
AR
DESCRIPCIÓN Hipoplasia de cartílago-pelo:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TSEN54
Hipoplasia pontocerebelar: Relacionada con TSEN54
AR
DESCRIPCIÓN Hipoplasia pontocerebelar: Relacionada con TSEN54:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLG
Hipoplasminogenemia (deficiencia de plasminógeno tipo 1)
AR
DESCRIPCIÓN Hipoplasminogenemia (deficiencia de plasminógeno tipo 1):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AR
Hipospadias 1
LXR
DESCRIPCIÓN Hipospadias 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CBS
Homocistinuria causada por deficiencia de CBS
AR
DESCRIPCIÓN Homocistinuria causada por deficiencia de CBS:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ABCA12
Ictiosis congénita: Relacionada con ABCA12
AR
DESCRIPCIÓN Ictiosis congénita: Relacionada con ABCA12:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TGM1
Ictiosis laminar, tipo 1
AR
DESCRIPCIÓN Ictiosis laminar, tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CD3D
Inmunodeficiencia 19 (Deficiencia de CD3-delta)
AR
DESCRIPCIÓN Inmunodeficiencia 19 (Deficiencia de CD3-delta):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CD247
Inmunodeficiencia 25 (debido a defecto en el CD3-ZETA)
AR
DESCRIPCIÓN Inmunodeficiencia 25 (debido a defecto en el CD3-ZETA):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IFNGR1
Inmunodeficiencia 27A, susceptibilidad a micobacteriosis, autosómica recesiva
AR
DESCRIPCIÓN Inmunodeficiencia 27A, susceptibilidad a micobacteriosis, autosómica recesiva:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IFNGR2
Inmunodeficiencia 28, susceptibilidad a micobacteriosis
AR
DESCRIPCIÓN Inmunodeficiencia 28, susceptibilidad a micobacteriosis:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IL12B
Inmunodeficiencia 29 (Deficiencia de la interliquina 12B)
AR
DESCRIPCIÓN Inmunodeficiencia 29 (Deficiencia de la interliquina 12B):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IL12RB1
Inmunodeficiencia 30 (Deficiencia del receptor de interluquina 12)
AR
DESCRIPCIÓN Inmunodeficiencia 30 (Deficiencia del receptor de interluquina 12):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
STAT1
Inmunodeficiencia 31B (Deficiencia de STAT1)
AR
DESCRIPCIÓN Inmunodeficiencia 31B (Deficiencia de STAT1):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IKBKG
Inmunodeficiencia 33, susceptibilidad a micobacteriosis
LXR
DESCRIPCIÓN Inmunodeficiencia 33, susceptibilidad a micobacteriosis:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TYK2
Inmunodeficiencia 35 (Deficiencia de la tirosina quinasa 2)
AR
DESCRIPCIÓN Inmunodeficiencia 35 (Deficiencia de la tirosina quinasa 2):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ORAI1
Inmunodeficiencia 9
AR
DESCRIPCIÓN Inmunodeficiencia 9:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IL2RG
Inmunodeficiencia combinada (grave (SCID) o moderada), ligado al X
LXR
DESCRIPCIÓN Inmunodeficiencia combinada (grave (SCID) o moderada), ligado al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAG1
Inmunodeficiencia combinada celular y humoral con granulomas: Relacionada con RAG1
AR
DESCRIPCIÓN Inmunodeficiencia combinada celular y humoral con granulomas: Relacionada con
RAG1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAG2
Inmunodeficiencia combinada celular y humoral con granulomas: Relacionada con RAG2
AR
DESCRIPCIÓN Inmunodeficiencia combinada celular y humoral con granulomas: Relacionada con
RAG2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CD3E
Inmunodeficiencia combinada grave 18
AR
DESCRIPCIÓN Inmunodeficiencia combinada grave 18:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
JAK3
Inmunodeficiencia combinada grave tipo T- B+ por deficiencia de JAK3
AR
DESCRIPCIÓN Inmunodeficiencia combinada grave tipo T- B+ por deficiencia de JAK3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CD3G
Inmunodeficiencia combinada por deficiencia de CD3gamma
AR
DESCRIPCIÓN Inmunodeficiencia combinada por deficiencia de CD3gamma:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
STIM1
Inmunodeficiencia combinada por deficiencia de STIM1
AR
DESCRIPCIÓN Inmunodeficiencia combinada por deficiencia de STIM1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAG1
Inmunodeficiencia combinada severa células B negativas
AR
DESCRIPCIÓN Inmunodeficiencia combinada severa células B negativas:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAG2
Inmunodeficiencia combinada severa células B negativas
AR
DESCRIPCIÓN Inmunodeficiencia combinada severa células B negativas:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DCLRE1C
Inmunodeficiencia combinada severa, tipo Athabascan
AR
DESCRIPCIÓN Inmunodeficiencia combinada severa, tipo Athabascan:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ICOS
Inmunodeficiencia común variable 1
AR
DESCRIPCIÓN Inmunodeficiencia común variable 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CD19
Inmunodeficiencia común variable 3
AR
DESCRIPCIÓN Inmunodeficiencia común variable 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FOXN1
Inmunodeficiencia de células T, alopecia congénita y distrofia de las uñas
AR
DESCRIPCIÓN Inmunodeficiencia de células T, alopecia congénita y distrofia de las uñas:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CD40LG
Inmunodeficinecia ligada al X, con hiperinmunoglobulinemia M
LXR
DESCRIPCIÓN Inmunodeficinecia ligada al X, con hiperinmunoglobulinemia M:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NTRK1
Insensibilidad congénita al dolor con anhidrosis
AR
DESCRIPCIÓN Insensibilidad congénita al dolor con anhidrosis:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALDOB
Intolerancia a la fructosa
AR
DESCRIPCIÓN Intolerancia a la fructosa:
Patrón de herencia autosómico recesiva con prevalencia de 1/100.000. Edad de aparición neonatal/infantil con dolor abdominal,
vómitos, hipoglucemia tras la ingestión de fructosa.
ALDOB
Intolerancia hereditaria a la fructosa
AR
DESCRIPCIÓN Intolerancia hereditaria a la fructosa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SC5DL
Latosterolosis
AR
DESCRIPCIÓN Latosterolosis:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
INSR
Leprechaunismo
AR
DESCRIPCIÓN Leprechaunismo:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GALC
Leucodistrofia de células globoides
AR
DESCRIPCIÓN Leucodistrofia de células globoides:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GJC2
Leucodistrofia hipomielinizante 2
AR
DESCRIPCIÓN Leucodistrofia hipomielinizante 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FAM126A
Leucodistrofia hipomielinizante 5
AR
DESCRIPCIÓN Leucodistrofia hipomielinizante 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ARSA
Leucodistrofia metacromática
AR
DESCRIPCIÓN Leucodistrofia metacromática:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PSAP
Leucodistrofia metacromática debido a deficiencia de SAP-b
AR
DESCRIPCIÓN Leucodistrofia metacromática debido a deficiencia de SAP-b:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MLC1
Leucoencefalopatía megaloencefálica
AR
DESCRIPCIÓN Leucoencefalopatía megaloencefálica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PRF1
Linfohistiocitosis hemofagocítica familiar 2
AR
DESCRIPCIÓN Linfohistiocitosis hemofagocítica familiar 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
STX11
Linfohistiocitosis hemofagocítica familiar 4
AR
DESCRIPCIÓN Linfohistiocitosis hemofagocítica familiar 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLN5
Lipofuscinosis ceroidea neuronal: Relacionada con CLN5
AR
DESCRIPCIÓN Lipofuscinosis ceroidea neuronal: Relacionada con CLN5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLN6
Lipofuscinosis ceroidea neuronal: Relacionada con CLN6
AR
DESCRIPCIÓN Lipofuscinosis ceroidea neuronal: Relacionada con CLN6:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLN8
Lipofuscinosis ceroidea neuronal: Relacionada con CLN8
AR
DESCRIPCIÓN Lipofuscinosis ceroidea neuronal: Relacionada con CLN8:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MFSD8
Lipofuscinosis ceroidea neuronal: Relacionada con MFSD8
AR
DESCRIPCIÓN Lipofuscinosis ceroidea neuronal: Relacionada con MFSD8:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PPT1
Lipofuscinosis ceroidea neuronal: Relacionada con PPT1
AR
DESCRIPCIÓN Lipofuscinosis ceroidea neuronal: Relacionada con PPT1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TPP1
Lipofuscinosis ceroidea neuronal: Relacionada con TPP1
AR
DESCRIPCIÓN Lipofuscinosis ceroidea neuronal: Relacionada con TPP1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CTSD
Lipofuscinosis neuronal ceroide 10 (Deficiencia de catepsina D)
AR
DESCRIPCIÓN Lipofuscinosis neuronal ceroide 10 (Deficiencia de catepsina D):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLN3
Lipofuscinosis neuronal ceroide juvenil 3
AR
DESCRIPCIÓN Lipofuscinosis neuronal ceroide juvenil 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RELN
Lisencefalia 2 (Tipo Norman-Roberts)
AR
DESCRIPCIÓN Lisencefalia 2 (Tipo Norman-Roberts):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
STRA6
Microftalmia aislada con coloboma 8
AR
DESCRIPCIÓN Microftalmia aislada con coloboma 8:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
STRA6
Microftalmia sindrómica 9
AR
DESCRIPCIÓN Microftalmia sindrómica 9:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DSP
Miocardiopatía dilatada, de pelo lanoso y queratodermia
AR
DESCRIPCIÓN Miocardiopatía dilatada, de pelo lanoso y queratodermia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MTM1
Miopatía miotubular, ligada al X
LXR
DESCRIPCIÓN Miopatía miotubular, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NEB
Miopatía nemalínica: Relacionada con NEB
AR
DESCRIPCIÓN Miopatía nemalínica: Relacionada con NEB:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL6A2
Miosclerosis congénita
AR
DESCRIPCIÓN Miosclerosis congénita:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TMEM67
Modificador del Síndrome de Bardet- Biedl 14
AR
DESCRIPCIÓN Modificador del Síndrome de Bardet- Biedl 14:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GNPTAB
Mucolipidosis, tipo II
AR
DESCRIPCIÓN Mucolipidosis, tipo II:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GNPTAB
Mucolipidosis, tipo III
AR
DESCRIPCIÓN Mucolipidosis, tipo III:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MCOLN1
Mucolipidosis, tipo IV
AR
DESCRIPCIÓN Mucolipidosis, tipo IV:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLCN5
Nefrolitiasis, tipo I
LRX
DESCRIPCIÓN Nefrolitiasis, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TNEM67
Nefronoptisis 11
AR
DESCRIPCIÓN Nefronoptisis 11:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHP3
Nefronoptisis 3
AR
DESCRIPCIÓN Nefronoptisis 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHP4
Nefronoptisis 4
AR
DESCRIPCIÓN Nefronoptisis 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
INVS
Nefronoptisis infantil 2
AR
DESCRIPCIÓN Nefronoptisis infantil 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHP1
Nefronoptisis juvenil 1
AR
DESCRIPCIÓN Nefronoptisis juvenil 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FOLR1
Neurodegeneración debido a deficiencia en el transporte de folato cerebral
AR
DESCRIPCIÓN Neurodegeneración debido a deficiencia en el transporte de folato cerebral:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PANK2
Neurodegeneración por acumulación de hierro en el cerebro 1
AR
DESCRIPCIÓN Neurodegeneración por acumulación de hierro en el cerebro 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLA2G6
Neurodegeneración por acumulación de hierro en el cerebro 2B
AR
DESCRIPCIÓN Neurodegeneración por acumulación de hierro en el cerebro 2B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MPV17
Neurohepatopatía del Navajo (Síndrome de depleción del ADN mitocondrial 6)
AR
DESCRIPCIÓN Neurohepatopatía del Navajo (Síndrome de depleción del ADN mitocondrial 6):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DESCRIPCIÓN Neuropatía atáxica sensitiva - disartria - oftalmoplejía:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IGHMBP2
Neuropatía motora distal hereditaria, tipo 4
AR
DESCRIPCIÓN Neuropatía motora distal hereditaria, tipo 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DESCRIPCIÓN Neutropenia congénita grave, autosómica recesiva 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DESCRIPCIÓN Neutropenia congénita grave, autosómica recesiva 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
WAS
Neutropenia congénita grave, ligada al X
LXR
DESCRIPCIÓN Neutropenia congénita grave, ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POLG
Oftalmoplejía externa progresiva con deleciones del ADN mitocondrial, autosómica recesiva 1
AR
DESCRIPCIÓN Oftalmoplejía externa progresiva con deleciones del ADN mitocondrial, autosómica
recesiva 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TK2
Oftalmoplejía externa progresiva con deleciones del ADN mitocondrial, autosómica recesiva 3
AR
DESCRIPCIÓN Oftalmoplejía externa progresiva con deleciones del ADN mitocondrial, autosómica
recesiva 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DGUOK
Oftalmoplejía externa progresiva con deleciones del ADN mitocondrial, autosómica recesiva 4
AR
DESCRIPCIÓN Oftalmoplejía externa progresiva con deleciones del ADN mitocondrial, autosómica
recesiva 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
>
CRTAP
Osteogénesis imperfecta, tipo VII
AR
DESCRIPCIÓN Osteogénesis imperfecta, tipo VII:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LEPRE1
Osteogénesis imperfecta, tipo VIII
AR
DESCRIPCIÓN Osteogénesis imperfecta, tipo VIII:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CA2
Osteopetrosis autosómica recesiva 3 con acidosis tubular renal
AR
DESCRIPCIÓN Osteopetrosis autosómica recesiva 3 con acidosis tubular renal:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OSTM1
Osteopetrosis autosómica recesiva 5
AR
DESCRIPCIÓN Osteopetrosis autosómica recesiva 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TCIRG1
Osteoporosis: Relacionada con TCIRG1
AR
DESCRIPCIÓN Osteoporosis: Relacionada con TCIRG1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALS2
Parálisis espástica hereditaria ascendente de aparición infantil
AR>
DESCRIPCIÓN Parálisis espástica hereditaria ascendente de aparición infantil:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GJC2
Paraplejía espástica, autosómica recesiva 44
AR
DESCRIPCIÓN Paraplejía espástica, autosómica recesiva 44:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLP1
Paraplejía espástica, ligada al X 2
LXR
DESCRIPCIÓN Paraplejía espástica, ligada al X 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GJB2
Pérdida de audición y sordera no sindrómica: Relacionada con GJB2
AR
DESCRIPCIÓN Pérdida de audición y sordera no sindrómica: Relacionada con GJB2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
UROS
Porfiria eritropoyética congénita
AR
DESCRIPCIÓN Porfiria eritropoyética congénita:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLCN5
Proteinuria de bajo peso molecular asociado con hipercalciuria y nefrocalcinosis
AR
DESCRIPCIÓN Proteinuria de bajo peso molecular asociado con hipercalciuria y nefrocalcinosis:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HEXA
Pseudodeficiencia de beta-hexosaminidasa
AR
DESCRIPCIÓN Pseudodeficiencia de beta-hexosaminidasa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SCNN1A
Pseudohipoaldosteronismo, tipo 1: Relacionado a SCNN1A
AR
DESCRIPCIÓN Pseudohipoaldosteronismo, tipo 1: Relacionado a SCNN1A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SCNN1B
Pseudohipoaldosteronismo, tipo 1: Relacionado a SCNN1B
AR
DESCRIPCIÓN Pseudohipoaldosteronismo, tipo 1: Relacionado a SCNN1B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SCNN1G
Pseudohipoaldosteronismo, tipo 1: Relacionado a SCNN1G
AR
DESCRIPCIÓN Pseudohipoaldosteronismo, tipo 1: Relacionado a SCNN1G:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ADAMTS13
Púrpura trombocitopénica trombótica familiar
AR
DESCRIPCIÓN Púrpura trombocitopénica trombótica familiar:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MBTPS2
Queratosis folicular espinulosa decalvante ligada al X
AR
DESCRIPCIÓN Queratosis folicular espinulosa decalvante ligada al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CYP27B1
Raquitismo dependiente de vitamina D, tipo I
AR
DESCRIPCIÓN Raquitismo dependiente de vitamina D, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLCN5
Raquitismo hipofosfatemico
AR
DESCRIPCIÓN Raquitismo hipofosfatemico:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DMP1
Raquitismo hipofosfatemico, autosímica recesiva
AR
DESCRIPCIÓN Raquitismo hipofosfatemico, autosímica recesiva:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
VDR
Raquitismo resistente a la vitamina D, tipo IIA
AR
DESCRIPCIÓN Raquitismo resistente a la vitamina D, tipo IIA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LHCGR
Resistencia a la hormona luteinizante (hipoplasia de células de Leydig)
AR
DESCRIPCIÓN Resistencia a la hormona luteinizante (hipoplasia de células de Leydig):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HSD17B10
Retardo mental sindrómico ligado al X 10
LXR
DESCRIPCIÓN Retardo mental sindrómico ligado al X 10:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MECP2
Retardo mental sindrómico ligado al X 13
LXR
DESCRIPCIÓN Retardo mental sindrómico ligado al X 13:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
UPF3B
Retardo mental sindrómico ligado al X 14
LXR
DESCRIPCIÓN Retardo mental sindrómico ligado al X 14:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CUL4B
Retardo mental sindrómico ligado al X 15 (tipo Cabezas)
LXR
DESCRIPCIÓN Retardo mental sindrómico ligado al X 15 (tipo Cabezas):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
>
FGD1
Retardo mental sindrómico ligado al X 16
LXR
DESCRIPCIÓN Retardo mental sindrómico ligado al X 16:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AP1S2
Retardo mental sindrómico ligado al X 5
LXR
DESCRIPCIÓN Retardo mental sindrómico ligado al X 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LXR
DESCRIPCIÓN Acidemia glutárica, tipo I (GCDH):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MECP2
Retardo mental sindrómico ligado al X tipo Lubs
LXR
DESCRIPCIÓN Retardo mental sindrómico ligado al X tipo Lubs:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
UBE2A
Retardo mental sindrómico ligado al X tipo Nascimento
LXR
DESCRIPCIÓN Retardo mental sindrómico ligado al X tipo Nascimento:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OFD1
Retinitis pigmentosa 23
LXR
DESCRIPCIÓN Retinitis pigmentosa 23:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HGSNAT
Retinitis pigmentosa 73
AR
DESCRIPCIÓN Retinitis pigmentosa 73:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POMGNT1
Retinitis pigmentosa 76
AR
DESCRIPCIÓN Retinitis pigmentosa 76:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PRSS12
Retraso mental autosómico recesivo 1
AR
DESCRIPCIÓN Retraso mental autosómico recesivo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TRAPPC9
Retraso mental autosómico recesivo 13
AR
DESCRIPCIÓN Retraso mental autosómico recesivo 13:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NSUN2
Retraso mental autosómico recesivo 5
AR
DESCRIPCIÓN Retraso mental autosómico recesivo 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GRIK2
Retraso mental autosómico recesivo 6
AR
DESCRIPCIÓN Retraso mental autosómico recesivo 6:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OPHN1
Retraso mental con hipoplasia cerebelosa y apariencia facial distintiva ligado al X
LXR
DESCRIPCIÓN Retraso mental con hipoplasia cerebelosa y apariencia facial distintiva ligado
al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IL1RAPL1
Retraso mental ligado al X 21/34
LXR
DESCRIPCIÓN Retraso mental ligado al X 21/34:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PAK3
Retraso mental ligado al X 30/47
LXR
DESCRIPCIÓN Retraso mental ligado al X 30/47:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ARHGEF6
Retraso mental ligado al X 46
LXR
DESCRIPCIÓN Retraso mental ligado al X 46:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAB39B
Retraso mental ligado al X 72
LXR
DESCRIPCIÓN Retraso mental ligado al X 72:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FTSJ1
Retraso mental ligado al X 9
LXR
DESCRIPCIÓN Retraso mental ligado al X 9:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DLG3
Retraso mental ligado al X 90
LXR
DESCRIPCIÓN Retraso mental ligado al X 90:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BRWD3
Retraso mental ligado al X 93
LXR
DESCRIPCIÓN Retraso mental ligado al X 93:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
KDM5C
Retraso mental sindrómico tipo Claes-Jensen ligado al X
LXR
DESCRIPCIÓN Retraso mental sindrómico tipo Claes-Jensen ligado al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NEU1
Sialidosis tipo 1
AR
DESCRIPCIÓN Sialidosis tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NEU1
Sialidosis tipo 2
AR
DESCRIPCIÓN Sialidosis tipo 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CEP290
Síndrme de Senior-Loken 6
AR
DESCRIPCIÓN Síndrme de Senior-Loken 6:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AIRE
Síndrome autoimmune poliglandular, tipo I
AR
DESCRIPCIÓN Síndrome autoimmune poliglandular, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC6
Síndrome cerebro-óculo-facio-esquelético 1
AR
DESCRIPCIÓN Síndrome cerebro-óculo-facio-esquelético 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC5
Síndrome cerebro-óculo-facio-esquelético 3
AR
DESCRIPCIÓN Síndrome cerebro-óculo-facio-esquelético 3
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FGD1
Síndrome de Aarskog-Scott
LXR
DESCRIPCIÓN Síndrome de Aarskog-Scott:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
EDNRB
Síndrome de ABCD
AR
DESCRIPCIÓN Síndrome de ABCD:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RNASEH2B
Síndrome de Aicardi-Goutieres 2
AR
DESCRIPCIÓN Síndrome de Aicardi-Goutieres 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RNASEH2C
Síndrome de Aicardi-Goutieres 3
AR
DESCRIPCIÓN Síndrome de Aicardi-Goutieres 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RNASEH2A
Síndrome de Aicardi-Goutieres 4
AR
DESCRIPCIÓN Síndrome de Aicardi-Goutieres 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AAAS
Síndrome de Allgrove (Síndrome de triple-A, Síndrome de Achalasia-addisonianismo-alacrimia)
AR
DESCRIPCIÓN Síndrome de Allgrove (Síndrome de triple-A, Síndrome de Achalasia-addisonianismo-alacrimia):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL4A5
Síndrome de Alport: Ligado al X
LX
DESCRIPCIÓN Síndrome de Alport: Ligado al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL4A3
Síndrome de Alport: Relacionado con COL4A3
AR
Síndrome de Alport: Relacionado con COL4A3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL4A4
Síndrome de Alport: Relacionado con COL4A4
AR
DESCRIPCIÓN Síndrome de Alport: Relacionado con COL4A4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALMS1
Síndrome de Alstrom
AR
DESCRIPCIÓN Síndrome de Alstrom:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC12A6
Síndrome de Andermann (Agenesia de cuerpo calloso con neuropatía periférica)
AR
DESCRIPCIÓN Síndrome de Andermann (Agenesia de cuerpo calloso con neuropatía periférica):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POR
Síndrome de Antley-Bixler
AR
DESCRIPCIÓN Síndrome de Antley-Bixler:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PRPS1
Síndrome de Arts
LXR
DESCRIPCIÓN Síndrome de Arts:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MKS1
Síndrome de Bardet-Biedl 13
AR
DESCRIPCIÓN Síndrome de Bardet-Biedl 13:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CEP290
Síndrome de Bardet-Biedl 14
AR
DESCRIPCIÓN Síndrome de Bardet-Biedl 14:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TAZ
Síndrome de Barth
LXR
DESCRIPCIÓN Síndrome de Barth:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC12A1
Síndrome de Bartter, tipo 1
AR
DESCRIPCIÓN Síndrome de Bartter, tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
KCNJ1
Síndrome de Bartter, tipo 2
AR
DESCRIPCIÓN Síndrome de Bartter, tipo 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BCS1L
Síndrome de Bjornstad
AR
DESCRIPCIÓN Síndrome de Bjornstad:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BLM
Síndrome de Bloom
AR
DESCRIPCIÓN Síndrome de Bloom:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAB23
Síndrome de Carpenter
AR
DESCRIPCIÓN Síndrome de Carpenter:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SNAP29
Síndrome de CEDNIK
AR
DESCRIPCIÓN Síndrome de CEDNIK:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LYST
Síndrome de Chediak-Higashi
AR
DESCRIPCIÓN Síndrome de Chediak-Higashi:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RPGRIP1L
Síndrome de COACH: Relacionado con RPGRIP1L
AR
DESCRIPCIÓN Síndrome de COACH: Relacionado con RPGRIP1L:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TMEM67
Síndrome de COACH: Relacionado con TMEM67
AR
DESCRIPCIÓN Síndrome de COACH: Relacionado con TMEM67:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC8
Síndrome de Cockayne, tipo A
AR
DESCRIPCIÓN Síndrome de Cockayne, tipo A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC6
Síndrome de Cockayne, tipo B
AR
DESCRIPCIÓN Síndrome de Cockayne, tipo B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GLE1
Síndrome de contractura congénita letal 1
AR
DESCRIPCIÓN Síndrome de contractura congénita letal 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERBB3
Síndrome de contractura congénita letal 2
AR
DESCRIPCIÓN Síndrome de contractura congénita letal 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ZNF469
Síndrome de córnea fragil 1
AR
DESCRIPCIÓN Síndrome de córnea fragil 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
L1CAM
Sindrome de CRASH
LXR
DESCRIPCIÓN Sindrome de CRASH:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC6
AR
DESCRIPCIÓN Acidemia glutárica, tipo I (GCDH):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TYMP
Síndrome de depleción de ADN Mitocondrial 1 (tipo MNGIE)
AR
DESCRIPCIÓN Síndrome de depleción de ADN Mitocondrial 1 (tipo MNGIE):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TK2
Síndrome de depleción de ADN mitocondrial 2 (tipo miopático)
AR
DESCRIPCIÓN Síndrome de depleción de ADN mitocondrial 2 (tipo miopático):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DGUOK
Síndrome de depleción de ADN mitocondrial 3 (tipo hepatocerebral)
AR
DESCRIPCIÓN Síndrome de depleción de ADN mitocondrial 3 (tipo hepatocerebral):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POLG
Síndrome de depleción de ADN Mitocondrial 4A (tipo Alpers)
AR
DESCRIPCIÓN Síndrome de depleción de ADN Mitocondrial 4A (tipo Alpers):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
POLG
Síndrome de depleción de ADN Mitocondrial 4B (tipo MNGIE)
AR
DESCRIPCIÓN Síndrome de depleción de ADN Mitocondrial 4B (tipo MNGIE):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SUCLA2
Síndrome de depleción de ADN mitocondrial 5 (encefalomiopático con o sin aciduria metilmalónica)
AR
DESCRIPCIÓN Síndrome de depleción de ADN mitocondrial 5 (encefalomiopático con o sin aciduria
metilmalónica):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
C10ORF2
Síndrome de depleción de ADN mitocondrial 7 (tipo hepatocerebral)
AR
DESCRIPCIÓN Síndrome de depleción de ADN mitocondrial 7 (tipo hepatocerebral):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RRM2B
Síndrome de depleción de ADN mitocondrial 8A (tipo encefalomiopático con tubulopatía renal)
AR
DESCRIPCIÓN Síndrome de depleción de ADN mitocondrial 8A (tipo encefalomiopático con tubulopatía
renal):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RRM2B
Síndrome de depleción de ADN mitocondrial 8B (tipo MNGIE)
AR
DESCRIPCIÓN Síndrome de depleción de ADN mitocondrial 8B (tipo MNGIE):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SUCLG1
Síndrome de depleción de ADN mitocondrial 9 (tipo encefalomiopático con aciduria metilmalónica)
AR
DESCRIPCIÓN Síndrome de depleción de ADN mitocondrial 9 (tipo encefalomiopático con aciduria
metilmalónica):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
VLDLR
Síndrome de desequilibrio, ataxia cerebelosa con deficiencia intelectual
AR
DESCRIPCIÓN Síndrome de desequilibrio, ataxia cerebelosa con deficiencia intelectual:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LRP2
Síndrome de Donnai-Barrow
AR
DESCRIPCIÓN Síndrome de Donnai-Barrow:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
G6PC3
Síndrome de Dursun
AR
DESCRIPCIÓN Síndrome de Dursun:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COL1A2
Síndrome de Ehlers-Danlos tipo cardiaco valvular
AR
DESCRIPCIÓN Síndrome de Ehlers-Danlos tipo cardiaco valvular:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLOD1
Síndrome de Ehlers-Danlos, tipo VI
AR
DESCRIPCIÓN Síndrome de Ehlers-Danlos, tipo VI:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PTH1R
Síndrome de Eiken
AR
DESCRIPCIÓN Síndrome de Eiken:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
EVC
Síndrome de Ellis-van Creveld: Relacionado a EVC
AR
DESCRIPCIÓN Síndrome de Ellis-van Creveld: Relacionado a EVC:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
EVC2
Síndrome de Ellis-van Creveld: Relacionado a EVC2
AR
DESCRIPCIÓN Síndrome de Ellis-van Creveld: Relacionado a EVC2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ST3GAL5
Síndrome de epilepsia infantil de Amish
AR
DESCRIPCIÓN Síndrome de epilepsia infantil de Amish:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CHRNG
Síndrome de Escobar
AR
DESCRIPCIÓN Síndrome de Escobar:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HSD11B2
Síndrome de exceso aparente de mineralcorticoides
AR
DESCRIPCIÓN Síndrome de exceso aparente de mineralcorticoides:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ANTXR2
Síndrome de fibromatosis hialina
AR
DESCRIPCIÓN Síndrome de fibromatosis hialina:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FRAS1
Síndrome de Fraser: Relacionado con FRAS1
AR
DESCRIPCIÓN Síndrome de Fraser: Relacionado con FRAS1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FREM2
Síndrome de Fraser: Relacionado con FREM2
AR
DESCRIPCIÓN Síndrome de Fraser: Relacionado con FREM2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
WNT7A
Síndrome de Fuhrmann
AR
DESCRIPCIÓN Síndrome de Fuhrmann:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALG9
Síndrome de Gillessen-Kaesbach-Nishimura
AR
DESCRIPCIÓN Síndrome de Gillessen-Kaesbach-Nishimura:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MYO5A
Síndrome de Griscelli, tipo 1
AR
DESCRIPCIÓN Síndrome de Griscelli, tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAB27A
Síndrome de Griscelli, tipo 2
AR
DESCRIPCIÓN Síndrome de Griscelli, tipo 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PANK2
Síndrome de HARP
AR
DESCRIPCIÓN Síndrome de HARP:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX1
Síndrome de Heimler 1
AR
DESCRIPCIÓN Síndrome de Heimler 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AP3B1
Síndrome de Hermansky-Pudlak 2
AR
DESCRIPCIÓN Síndrome de Hermansky-Pudlak 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLDN/BLOC1S6
Síndrome de Hermansky-Pudlak 9
AR
DESCRIPCIÓN Síndrome de Hermansky-Pudlak 9:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MVK
Síndrome de hiperinmunoglobulinemia D
AR
DESCRIPCIÓN Síndrome de hiperinmunoglobulinemia D:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DOCK8
Síndrome de hiperinmunoglobulinemia E, autosómica recesiva
AR
DESCRIPCIÓN Síndrome de hiperinmunoglobulinemia E, autosómica recesiva:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IDS
Síndrome de Hunter
LXR
DESCRIPCIÓN Síndrome de Hunter:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IDUA
Síndrome de Hurler
AR
DESCRIPCIÓN Síndrome de Hurler:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IDUA
Síndrome de Hurler-Scheie
AR
DESCRIPCIÓN Síndrome de Hurler-Scheie:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLDN19
Síndrome de Ictiosis y colangitis esclerosante
AR
DESCRIPCIÓN Síndrome de Ictiosis y colangitis esclerosante:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MBTPS2
Síndrome de IFAP
LXR
DESCRIPCIÓN Síndrome de IFAP:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DNMT3B
Síndrome de inmunodeficiencia, inestabilidad centromérica y dismorfia 1
AR
DESCRIPCIÓN Síndrome de inmunodeficiencia, inestabilidad centromérica y dismorfia 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FOXP3
Síndrome de inmunodesregulación - poliendocrinopatía - enteropatía ligada al X
LXR
DESCRIPCIÓN Síndrome de inmunodesregulación - poliendocrinopatía - enteropatía ligada al
X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AR
Síndrome de insensibilidad a andrógenos: Completa
LXR
DESCRIPCIÓN Síndrome de insensibilidad a andrógenos: Completa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
UBR1
Síndrome de Johanson-Blizzard
AR
DESCRIPCIÓN Síndrome de Johanson-Blizzard:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MKS1
Síndrome de Joubert 28
AR
DESCRIPCIÓN Síndrome de Joubert 28:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
AHI1
Síndrome de Joubert 3
AR
DESCRIPCIÓN Síndrome de Joubert 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHP1
Síndrome de Joubert 4
AR
DESCRIPCIÓN Síndrome de Joubert 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OFD1
Síndrome de Joubert 5
LXR
DESCRIPCIÓN Síndrome de Joubert 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CEP290
Síndrome de Joubert 5
AR
DESCRIPCIÓN Síndrome de Joubert 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TMEM67
Síndrome de Joubert 6
AR
DESCRIPCIÓN Síndrome de Joubert 6:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SRD5A3
Síndrome de Kahrizi
AR
DESCRIPCIÓN Síndrome de Kahrizi:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TBCE
Síndrome de Kenny-Caffey, tipo 1
AR
DESCRIPCIÓN Síndrome de Kenny-Caffey, tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATP6V0A2
Síndrome de la piel arrugada
AR
DESCRIPCIÓN Síndrome de la piel arrugada:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LRPPRC
SÍndrome de Leigh, tipo francocanadiense
AR
DESCRIPCIÓN SÍndrome de Leigh, tipo francocanadiense:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BCS1L
Síndrome de Leigh: Relacionado con BCS1L
AR
DESCRIPCIÓN Síndrome de Leigh: Relacionado con BCS1L:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COX10
SÍndrome de Leigh: Relacionado con COX10
Mi, AR
DESCRIPCIÓN SÍndrome de Leigh: Relacionado con COX10:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
COX15
SÍndrome de Leigh: Relacionado con COX15
Mi, AR
DESCRIPCIÓN SÍndrome de Leigh: Relacionado con COX15:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NDUFAF2
SÍndrome de Leigh: Relacionado con NDUFAF2
Mi, AR
DESCRIPCIÓN SÍndrome de Leigh: Relacionado con NDUFAF2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NDUFS3
SÍndrome de Leigh: Relacionado con NDUFS3
Mi, AR
DESCRIPCIÓN SÍndrome de Leigh: Relacionado con NDUFS3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NUDFS4
SÍndrome de Leigh: Relacionado con NDUFS4
Mi, AR
DESCRIPCIÓN SÍndrome de Leigh: Relacionado con NDUFS4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NUDFS7
SÍndrome de Leigh: Relacionado con NDUFS7
Mi, AR
DESCRIPCIÓN SÍndrome de Leigh: Relacionado con NDUFS7:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NDUFS8
SÍndrome de Leigh: Relacionado con NDUFS8
Mi, AR
DESCRIPCIÓN SÍndrome de Leigh: Relacionado con NDUFS8:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SURF1
SÍndrome de Leigh: Relacionado con SURF1
Mi, AR
DESCRIPCIÓN SÍndrome de Leigh: Relacionado con SURF1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HPRT1
Síndrome de Lesch-Nyhan
LXR
DESCRIPCIÓN Síndrome de Lesch-Nyhan:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MED12
Síndrome de Lujan-Fryns
LXR
DESCRIPCIÓN Síndrome de Lujan-Fryns:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SIL1
Síndrome de Marinesco-Sjogren
AR
DESCRIPCIÓN Síndrome de Marinesco-Sjogren:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ARSB
Síndrome de Maroteaux-Lamy
AR
DESCRIPCIÓN Síndrome de Maroteaux-Lamy:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAB3GAP2
AR
DESCRIPCIÓN Acidemia glutárica, tipo I (GCDH):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
L1CAM
Síndrome de MASA
LXR
DESCRIPCIÓN Síndrome de MASA:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MKS1
Síndrome de Meckel, tipo 1
AR
DESCRIPCIÓN Síndrome de Meckel, tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TMEM67
Síndrome de Meckel, tipo 3
AR
DESCRIPCIÓN Síndrome de Meckel, tipo 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CEP290
Síndrome de Meckel, tipo 4
AR
DESCRIPCIÓN Síndrome de Meckel, tipo 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RPGRIP1L
AR
DESCRIPCIÓN Acidemia glutárica, tipo I (GCDH):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHP3
Síndrome de Meckel, tipo 7
AR
DESCRIPCIÓN Síndrome de Meckel, tipo 7:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TIMM8A
Síndrome de Mohr-Tranebjaerg
LXR
DESCRIPCIÓN Síndrome de Mohr-Tranebjaerg:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GLB1
Síndrome de Morquio, tipo B
AR
DESCRIPCIÓN Síndrome de Morquio, tipo B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TSPYL1
Síndrome de muerte infantil súbita con disgenesia de testículos
AR
DESCRIPCIÓN Síndrome de muerte infantil súbita con disgenesia de testículos:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MED12
Síndrome de Ohdo, ligado al X
LXR
DESCRIPCIÓN Síndrome de Ohdo, ligado al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MBTPS2
Síndrome de Olmsted, ligado al X
LXR
DESCRIPCIÓN Síndrome de Olmsted, ligado al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DCLRE1C
Síndrome de Omenn: Relacionado con DCLRE1C
AR
DESCRIPCIÓN Síndrome de Omenn: Relacionado con DCLRE1C:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAG1
Síndrome de Omenn: Relacionado con RAG1
AR
DESCRIPCIÓN Síndrome de Omenn: Relacionado con RAG1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAG2
Síndrome de Omenn: Relacionado con RAG2
AR
DESCRIPCIÓN Síndrome de Omenn: Relacionado con RAG2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MID1
Síndrome de Opitz G/BBB, tipo I
LXR
DESCRIPCIÓN Síndrome de Opitz G/BBB, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MED12
Síndrome de Opitz-Kaveggia
LXR
DESCRIPCIÓN Síndrome de Opitz-Kaveggia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ARX
Síndrome de Partington
LXR
DESCRIPCIÓN Síndrome de Partington:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DOK7
Síndrome de Pena-Shoker tipo I (Secuencia deformante de aquinesia fetal): Relacionado con DOK7
AR
DESCRIPCIÓN Síndrome de Pena-Shoker tipo I (Secuencia deformante de aquinesia fetal): Relacionado
con DOK7:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAPSN
Síndrome de Pena-Shoker tipo I (Secuencia deformante de aquinesia fetal): Relacionado con RAPSN
AR
DESCRIPCIÓN Síndrome de Pena-Shoker tipo I (Secuencia deformante de aquinesia fetal): Relacionado
con RAPSN:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HSD17B4
Síndrome de Perrault 1
AR
DESCRIPCIÓN Síndrome de Perrault 1
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TWNK/C10ORF2
Síndrome de Perrault 5
AR
DESCRIPCIÓN Síndrome de Perrault 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DSP
Síndrome de piel frágil - cabello lanoso
AR
DESCRIPCIÓN Síndrome de piel frágil - cabello lanoso:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMB2
Síndrome de Pierson
AR
DESCRIPCIÓN Síndrome de Pierson:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CHRNA1
Síndrome de pterigium múltiple tipo letal: Relacionado con CHRNA1
AR
DESCRIPCIÓN Síndrome de pterigium múltiple tipo letal: Relacionado con CHRNA1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CHRND
Síndrome de pterigium múltiple tipo letal: Relacionado con CHRND
AR
DESCRIPCIÓN Síndrome de pterigium múltiple tipo letal: Relacionado con CHRND:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
INSR
Síndrome de Rabson-Mendenhall
AR
DESCRIPCIÓN Síndrome de Rabson-Mendenhall:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FAM20C
Síndrome de Raine
AR
DESCRIPCIÓN Síndrome de Raine:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PQBP1
Síndrome de Renpenning
LXR
DESCRIPCIÓN Síndrome de Renpenning:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATRX
Síndrome de retraso mental con rostro hipotónico ligado al X
LXR
DESCRIPCIÓN Síndrome de retraso mental con rostro hipotónico ligado al X:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ESCO2
Sindrome de Roberts
AR
DESCRIPCIÓN Sindrome de Roberts:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SGSH
Síndrome de Sanfilippo, tipo A
AR
DESCRIPCIÓN Síndrome de Sanfilippo, tipo A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NAGLU
Síndrome de Sanfilippo, tipo B
AR
DESCRIPCIÓN Síndrome de Sanfilippo, tipo B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HGSNAT
Síndrome de Sanfilippo, tipo C
AR
DESCRIPCIÓN Síndrome de Sanfilippo, tipo C:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TBCE
Síndrome de Sanjad-Sakati (Síndrome de hipoparatiroidismo, deficiencia intelectual, dismorfismo)
AR
DESCRIPCIÓN Síndrome de Sanjad-Sakati (Síndrome de hipoparatiroidismo, deficiencia intelectual,
dismorfismo):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ESCO2
Síndrome de SC focomelia
AR
DESCRIPCIÓN Síndrome de SC focomelia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IDUA
Síndrome de Scheie
AR
DESCRIPCIÓN Síndrome de Scheie:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
WNT10A/th>
Síndrome de Schopf-Schulz-Passarge
AR
DESCRIPCIÓN Síndrome de Schopf-Schulz-Passarge:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HSPG2
Síndrome de Schwartz-Jampel tipo 1
AR
DESCRIPCIÓN Síndrome de Schwartz-Jampel tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATR
Síndrome de Seckel 1
AR
DESCRIPCIÓN Síndrome de Seckel 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHP1
Síndrome de Senior-Loken 1
AR
DESCRIPCIÓN Síndrome de Senior-Loken 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHP4
Síndrome de Senior-Loken 4
AR
DESCRIPCIÓN Síndrome de Senior-Loken 4:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
IQCB1
Síndrome de Senior-Loken 5
AR
DESCRIPCIÓN Síndrome de Senior-Loken 5:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC6
Síndrome de sensibilidad a los rayos UV 1
AR
DESCRIPCIÓN Síndrome de sensibilidad a los rayos UV 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC8
Síndrome de sensibilidad a los rayos UV 2
AR
DESCRIPCIÓN Síndrome de sensibilidad a los rayos UV 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SBDS
Síndrome de Shwachman-Diamond
AR
DESCRIPCIÓN Síndrome de Shwachman-Diamond:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
GPC3
Síndrome de Simpson-Golabi-Behmel tipo 1
LXR
DESCRIPCIÓN Síndrome de Simpson-Golabi-Behmel tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OFD1
Síndrome de Simpson-Golabi-Behmel, tipo 2
LXR
DESCRIPCIÓN Síndrome de Simpson-Golabi-Behmel, tipo 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALDH3A2
Síndrome de Sjogren-Larsson
AR
DESCRIPCIÓN Síndrome de Sjogren-Larsson:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DHCR7
Síndrome de Smith-Lemli-Opitz
AR
DESCRIPCIÓN Síndrome de Smith-Lemli-Opitz:
Patrón de herencia autosómico recesivo con prevalencia 1/20.000-40.000. La edad de aparición es neonatal/infantil con síntomas
como retardo mental.
LIFR
Síndrome de Stuve-Wiedemann
AR
DESCRIPCIÓN Síndrome de Stuve-Wiedemann:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CRLF1
Síndrome de sudoración inducida por frío 1
AR
DESCRIPCIÓN Síndrome de sudoración inducida por frío 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
WNT3
Síndrome de tetra-amelia
AR
DESCRIPCIÓN Síndrome de tetra-amelia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MYO7A
Síndrome de Usher, tipo 1B
AR
DESCRIPCIÓN Síndrome de Usher, tipo 1B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
USH1C
Síndrome de Usher, tipo 1C
AR
DESCRIPCIÓN Síndrome de Usher, tipo 1C:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CDH23
Síndrome de Usher, tipo 1D
AR
DESCRIPCIÓN Síndrome de Usher, tipo 1D:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
USH1G
Síndrome de Usher, tipo 1G
AR
DESCRIPCIÓN Síndrome de Usher, tipo 1G:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
USH2A
Síndrome de Usher, tipo 2A
AR
DESCRIPCIÓN Síndrome de Usher, tipo 2A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CLRN1
Síndrome de Usher, tipo 3
AR
DESCRIPCIÓN Síndrome de Usher, tipo 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAB39B>
Síndrome de Waisman
AR
DESCRIPCIÓN Síndrome de Waisman:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FKTN
Síndrome de Walker-Warburg
AR
DESCRIPCIÓN Síndrome de Walker-Warburg:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
WAS
Síndrome de Wiskott-Aldrich
LXR
DESCRIPCIÓN Síndrome de Wiskott-Aldrich:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
EIF2AK3
Síndrome de Wolcott-Rallison
AR
DESCRIPCIÓN Síndrome de Wolcott-Rallison:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ATP7A
Síndrome del cuerno occipital
LXR
DESCRIPCIÓN Síndrome del cuerno occipital:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CHRNG
Síndrome del Pterigium múltiple
AR
DESCRIPCIÓN Síndrome del Pterigium múltiple:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
BCS1L
Síndrome GRACILE
AR
DESCRIPCIÓN Síndrome GRACILE:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
LAMA3
Síndrome Laringo-Onico-Cutáneo
AR
DESCRIPCIÓN Síndrome Laringo-Onico-Cutáneo:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SH2D1A
Síndrome linfoproliferativo ligado al X 1
LXR
DESCRIPCIÓN Síndrome linfoproliferativo ligado al X 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DOK7
Síndrome miasténico congénito 10
AR
DESCRIPCIÓN Síndrome miasténico congénito 10:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAPSN
Síndrome miasténico congénito 11
AR
DESCRIPCIÓN Síndrome miasténico congénito 11:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DPAGT1
Síndrome miasténico congénito 13, con agregados tubulares>
AR
DESCRIPCIÓN Síndrome miasténico congénito 13, con agregados tubulares:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
5
ALG2
Síndrome miasténico congénito 14, con agregados tubulares
AR
DESCRIPCIÓN Síndrome miasténico congénito 14, con agregados tubulares:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CHRND
Síndrome miasténico congénito asociado con deficiencia del receptor de acetilcolina 3C
AR
DESCRIPCIÓN Síndrome miasténico congénito asociado con deficiencia del receptor de acetilcolina
3C:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CHRND
Síndrome miasténico congénito de canal rápido 3B
AR
DESCRIPCIÓN Síndrome miasténico congénito de canal rápido 3B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAB3GAP1
Síndrome Micro de Warburg 1
AR
DESCRIPCIÓN Síndrome Micro de Warburg 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RAB3GAP2
Síndrome Micro de Warburg 2
AR
DESCRIPCIÓN Síndrome Micro de Warburg 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHS1
Síndrome nefrótico, tipo 1
AR
DESCRIPCIÓN Síndrome nefrótico, tipo 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
NPHS2
Síndrome nefrótico, tipo 2
AR
DESCRIPCIÓN Síndrome nefrótico, tipo 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PLCE1
Síndrome nefrótico, tipo 3
AR
DESCRIPCIÓN Síndrome nefrótico, tipo 3:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
OCRL
Síndrome oculocerebrorenal de Lowe
LXR
DESCRIPCIÓN Síndrome oculocerebrorenal de Lowe:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CDH23
Sordera autosómica recesiva 12
AR
DESCRIPCIÓN Sordera autosómica recesiva 12:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
USH1C
Sordera autosómica recesiva 18A>
AR
DESCRIPCIÓN Sordera autosómica recesiva 18A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MYO7A
Sordera autosómica recesiva 2
AR
DESCRIPCIÓN Sordera autosómica recesiva 2:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
HPD
Tirosinemia, tipo III
AR
DESCRIPCIÓN Tirosinemia, tipo III:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
FAH
Tirosinemia, tipo I
AR
DESCRIPCIÓN Tirosinemia, tipo I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
TAT
Tirosinemia, tipo II
AR
DESCRIPCIÓN Tirosinemia, tipo II:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DPYD
Toxicidad por 5-fluorouracilo
AR
DESCRIPCIÓN Toxicidad por 5-fluorouracilo:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PMM2
Trastorno congénito de glicosilación, tipo 1A
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MPI
Trastorno congénito de glicosilación, tipo 1B
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALG6
Trastorno congénito de glicosilación, tipo 1C
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1C:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALG3
Trastorno congénito de glicosilación, tipo 1D
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1D:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DPM1
Trastorno congénito de glicosilación, tipo 1E
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1E:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MPDU1
Trastorno congénito de glicosilación, tipo 1F
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1F:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALG2
Trastorno congénito de glicosilación, tipo 1I
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1I:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DPAGT1
Trastorno congénito de glicosilación, tipo 1J
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1J:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ALG1
Trastorno congénito de glicosilación, tipo 1K
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1K:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DOLK
Trastorno congénito de glicosilación, tipo 1M
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1M:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
RFT1
Trastorno congénito de glicosilación, tipo 1N
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1N:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SRD5A3
Trastorno congénito de glicosilación, tipo 1Q
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 1Q:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MGAT2
Trastorno congénito de glicosilación, tipo 2A
AR6
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 2A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MOGS
Trastorno congénito de glicosilación, tipo 2B
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 2B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC35C1
Trastorno congénito de glicosilación, tipo 2C
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 2C:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
B4GALT1
Trastorno congénito de glicosilación, tipo 2D
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 2D:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
SLC35A1
Trastorno congénito de glicosilación, tipo 2F
AR
DESCRIPCIÓN Trastorno congénito de glicosilación, tipo 2F:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX1
Trastorno de la biogénesis del peroxisoma 1A (Zellweger)
AR
DESCRIPCIÓN Trastorno de la biogénesis del peroxisoma 1A (Zellweger):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX1
Trastorno de la biogénesis del peroxisoma 1B
AR
DESCRIPCIÓN Trastorno de la biogénesis del peroxisoma 1B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX5
Trastorno de la biogénesis del peroxisoma 2A (Zellweger)
AR
DESCRIPCIÓN Trastorno de la biogénesis del peroxisoma 2A (Zellweger):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX5
Trastorno de la biogénesis del peroxisoma 2B
AR
DESCRIPCIÓN Trastorno de la biogénesis del peroxisoma 2B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX12
Trastorno de la biogénesis del peroxisoma 3A (Zellweger)
AR
DESCRIPCIÓN Trastorno de la biogénesis del peroxisoma 3A (Zellweger):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX12
Trastorno de la biogénesis del peroxisoma 3B
AR
DESCRIPCIÓN Trastorno de la biogénesis del peroxisoma 3B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX10
Trastorno de la biogénesis del peroxisoma 6A (Zellweger)
AR
DESCRIPCIÓN Trastorno de la biogénesis del peroxisoma 6A (Zellweger):
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
PEX10
Trastorno de la biogénesis del peroxisoma 6B
AR
DESCRIPCIÓN Trastorno de la biogénesis del peroxisoma 6B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC2
Tricotiodistrofia fotosensible 1
AR
DESCRIPCIÓN Tricotiodistrofia fotosensible 1:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
WAS
Trombocitopenia
LXR
DESCRIPCIÓN Trombocitopenia:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
MPL
Trombocitopenia Amegacariocítica
AR
DESCRIPCIÓN Trombocitopenia Amegacariocítica:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
CYP27A1
Xantomatosis cerebrotendinosa
AR
DESCRIPCIÓN Xantomatosis cerebrotendinosa:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
XPA
Xeroderma Pigmentosa: Grupo A
AR
DESCRIPCIÓN Xeroderma Pigmentosa: Grupo A:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC3
Xeroderma Pigmentosa: Grupo B
AR
DESCRIPCIÓN Xeroderma Pigmentosa: Grupo B:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
XPC
Xeroderma Pigmentosa: Grupo C
AR
DESCRIPCIÓN Xeroderma Pigmentosa: Grupo C:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC2
Xeroderma Pigmentosa: Grupo D
AR
DESCRIPCIÓN Xeroderma Pigmentosa: Grupo D:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
DDB2
Xeroderma Pigmentosa: Grupo E, subtipo DDB-negativo
AR
DESCRIPCIÓN Xeroderma Pigmentosa: Grupo E, subtipo DDB-negativo:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.
ERCC4
Xeroderma Pigmentosa: Grupo F
AR
DESCRIPCIÓN Xeroderma Pigmentosa: Grupo F:
Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. Nihil anim keffiyeh helvetica,
craft beer labore wes anderson cred nesciunt sapiente ea proident. Anim pariatur
cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid.
Nihil anim keffiyeh helvetica, craft beer labore wes anderson cred nesciunt sapiente
ea proident.