Rare Disease Library

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant limb-girdle muscular dystrophy

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy · Hypomyelinating leukodystrophy due to hikeshi deficiency

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

Late-onset retinal degeneration

Autosomal dominant late-onset retinal degeneration · LORD

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia · SPAX8

OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness

RARS-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukoencephalopathy