Summary Literature (0)

DOID:0060789 - hypomyelinating leukodystrophy 4

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.

Synonyms: HLD4, MitCHAP60 disease, Pelizaeus-Merzbacher-like disease due to HSPD1 mutation, mitochondrial HSP60 chaperonopathy,

Echinobase Genes : hspd1


OMIM:

MIM:612233 - leukodystrophy, hypomyelinating, 4; hld4

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

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