Rare Disease Library

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

Aromatase deficiency

Congenital estrogen deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1A

LGMD1A · Limb-girdle muscular dystrophy due to myotilin deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1B

LGMD1B · Limb-girdle muscular dystrophy due to lamin A/C deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1C

LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 deficiency

Autosomal recessive limb-girdle muscular dystrophy type 2R

Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency · LGMD2R

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

Collagen VI-related congenital muscular dystrophy

COL6-RD

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital alpha2-antiplasmin deficiency

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

Congenital deficiency in alpha-fetoprotein

Congenital enteropathy due to enteropeptidase deficiency

Congenital enterokinase deficiency

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Congenital lactase deficiency

Congenital muscular dystrophy

CMD · MDC

Congenital muscular dystrophy due to dystroglycanopathy

CMD due to dystroglycanopathy

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital muscular dystrophy with hyperlaxity

CMDH

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with ITGA7 deficiency

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital muscular dystrophy, Davignon-Chauveau type

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

MKL1-related neutrophil motility defect · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

Laminin subunit alpha 2-related late-onset muscular dystrophy · Laminin subunit alpha 2-related LGMD R23

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

Limb-girdle muscular dystrophy due to POMK deficiency

LGMD due to POMK deficiency

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Obesity due to congenital leptin deficiency

OBSOLETE: GMPPB-related congenital muscular dystrophy

OBSOLETE: GMPPB-related CMD

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

Severe congenital neutropenia due to JAGN1 deficiency

Severe congenital neutropenia due to jagunal homolog 1 deficiency · SCN due to JAGN1 deficiency

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD