Rare Disease Library

Autosomal dominant limb-girdle muscular dystrophy type 1A

LGMD1A · Limb-girdle muscular dystrophy due to myotilin deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1B

LGMD1B · Limb-girdle muscular dystrophy due to lamin A/C deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1C

LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1E

LGMD1E

Autosomal dominant myoglobinuria

Autosomal dominant omodysplasia

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and congenital deafness

Konigsmark-Knox-Hussels syndrome · Autosomal dominant optic atrophy and congenital hearing loss

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

Autosomal dominant osteopetrosis type 1

Autosomal dominant prognathism

Autosomal dominant proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

Autosomal dominant spastic ataxia

AD-SPAX

Autosomal dominant spastic ataxia type 1

SPAX1

Autosomal dominant spastic paraplegia type 10

SPG10

Autosomal dominant spastic paraplegia type 12

SPG12

Autosomal dominant spastic paraplegia type 13

SPG13

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal dominant spastic paraplegia type 19

SPG19

Autosomal dominant spastic paraplegia type 29

SPG29

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

Autosomal dominant spastic paraplegia type 31

SPG31

Autosomal dominant spastic paraplegia type 36

SPG36

Autosomal dominant spastic paraplegia type 37

SPG37

Autosomal dominant spastic paraplegia type 38

SPG38

Autosomal dominant spastic paraplegia type 4

SPG4

Autosomal dominant spastic paraplegia type 41

SPG41

Autosomal dominant spastic paraplegia type 42

SPG42

Autosomal dominant spastic paraplegia type 6

SPG6

Autosomal dominant spastic paraplegia type 73

SPG73

Autosomal dominant spastic paraplegia type 8

SPG8

Autosomal dominant spastic paraplegia type 80

Autosomal dominant spastic paraplegia type 9A

Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

Autosomal dominant spastic paraplegia type 9B

AD-SPG9B

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Autosomal recessive optic atrophy, OPA7 type

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

DNAJB6-related limb-girdle muscular dystrophy D1

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

Early-onset X-linked optic atrophy

Non-Leber type optic atrophy with early-onset · OPA2

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

HNRNPDL-related limb-girdle muscular dystrophy D3

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

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia