Summary Literature (0)

DOID:0060793 - hypomyelinating leukodystrophy 5

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.

Synonyms: HLD5, hypomyelination-congenital cataract syndrome,

Echinobase Genes :


OMIM:

MIM:610532 - leukodystrophy, hypomyelinating, 5; hld5

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

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