combined oxidative phosphorylation deficiency 32

Summary

DOID:0111492 - combined oxidative phosphorylation deficiency 32

Disease Ontology Definition:A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3.

Synonyms: COXPD32

Xenbase 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

: mrps34

MIM:

MIM:617664 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

MIM:617664 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

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), combined oxidative phosphorylation deficiency (is_a)