Rare Disease Library

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Adult-onset Steinert myotonic dystrophy

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

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

BIDS syndrome

Amish brittle hair syndrome · Trichothiodystrophy type D

Childhood-onset Steinert myotonic dystrophy

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

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital-onset Steinert myotonic dystrophy

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

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

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

Myoclonic dystonia 15

DYT15 · Myoclonus-dystonia type 15

Myotonic dystrophy

Myotonic dystrophy type 3

Non-dystrophic myopathy

North Carolina macular dystrophy

CAPE dystrophy · CAPED

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Retinal macular dystrophy type 2

MCDR2

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F