hypomyelinating leukodystrophy 4

Summary

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, mitochondrial HSP60 chaperonopathy, Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hspd1

MIM:

MIM:612233 - leukodystrophy, hypomyelinating, 4; hld4

MIM:612233 - leukodystrophy, hypomyelinating, 4; hld4

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

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

Parent(s): autosomal recessive disease (is_a), hypomyelinating leukodystrophy (is_a)