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 ...