Rare Disease Library

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

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

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

GBE deficiency, adult neuromuscular form · GSD due to glycogen branching enzyme deficiency, adult neuromuscular form

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

GBE deficiency, childhood neuromuscular form · GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form

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

Glycogen storage disease type IV, fatal perinatal neuromuscular form · Glycogenosis type IV, fatal perinatal neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease type IV, non progressive hepatic form · Glycogenosis type IV, non progressive hepatic form

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

GBE deficiency, progressive hepatic form · GSD due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Muscular glycogenosis

Glycogen storage myopathy