Rare Disease Library

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

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

Autosomal recessive ACTN2-related distal myopathy

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia · SPAX8

Progressive cavitating leukoencephalopathy

PYCR2-related microcephaly-progressive leukoencephalopathy

RARS-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukoencephalopathy