Rare Disease Library

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

Albright hereditary osteodystrophy

Congenital generalized lipodystrophy

BSCL · Berardinelli-Seip syndrome

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 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, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

Congenital-onset Steinert myotonic dystrophy

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

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD

Hereditary bullous dystrophy, macular type

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary thrombophilia due to congenital HRG deficiency

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 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

Non-hereditary congenital primary lymphedema

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

Schnyder corneal dystrophy

Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder

Stromal corneal dystrophy

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD