Rare Disease Library

Congenital myopathy with reduced type 2 muscle fibers

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

Congenital fiber-type disproportion myopathy

CFTDM

Congenital lethal myopathy, Compton-North type

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital myopathy

Congenital myopathy with cores

Congenital myopathy with excess of thin filaments

Actin myopathy

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

Congenital myopathy with myasthenic-like onset

Congenital myopathy, Paradas type

Congenital nemaline myopathy

Congenital-onset Steinert myotonic dystrophy

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

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

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

Microvillus inclusion disease

Congenital microvillous atrophy · Congenital microvillus atrophy

OBSOLETE: Congenital myopathy with central nuclei

OBSOLETE: Congenital myopathy with fiber size variation

OBSOLETE: Congenital myopathy with vacuoles