Rare Disease Library

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

Ataxia-delayed dentition-hypomyelination syndrome

Ataxia-tapetoretinal degeneration syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Hypomyelination neuropathy-arthrogryposis syndrome

Hypomyelination-congenital cataract syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome