Rare Disease Library

Congenital-onset Steinert myotonic dystrophy

Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Congenital muscular dystrophy

CMD · MDC

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

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 myopathy with myasthenic-like onset

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

Congenital myopathy, Paradas type

Congenital myotonia

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

Juvenile-onset Steinert myotonic dystrophy

Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

Lattice corneal dystrophy type I

Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myotonic dystrophy

Myotonic dystrophy type 3

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD