DISEASES

Disease-gene associations mined from literature

Human genes for hypomyelinating leukodystrophy 2

Hypomyelinating leukodystrophy 2 [DOID:0060787]

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.

Synonyms:  hypomyelinating leukodystrophy 2,  DOID:0060787,  HLD2,  Pelizaeus-Merzbacher-like disease 1,  Pelizaeus-Merzbacher-like disease due to GJC2 mutation ...