Rare Disease Library

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

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

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

Ataxia-delayed dentition-hypomyelination syndrome

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia · SPAX8

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

RARS-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukodystrophy

VPS11-related autosomal recessive hypomyelinating leukoencephalopathy