Rare Disease Library

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia · SPAX8

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

Autosomal recessive degenerative and progressive cerebellar ataxia

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

Autosomal recessive spastic ataxia

AR-SPAX

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

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

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

Ataxia-delayed dentition-hypomyelination syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

RARS-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukoencephalopathy