Summary Literature (0)

DOID:0060787 - hypomyelinating leukodystrophy 2

Disease Ontology Definition: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: HLD2, PMLD1, Pelizaeus-Merzbacher-like disease 1, Pelizaeus-Merzbacher-like disease due to GJC2 mutation,

Echinobase Genes :


OMIM:

MIM:608804 - leukodystrophy, hypomyelinating, 2; hld2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee