combined oxidative phosphorylation deficiency 35

Summary

DOID:0111464 - combined oxidative phosphorylation deficiency 35

Disease Ontology Definition:A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2.

Synonyms: COXPD35

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

: trit1

MIM:

MIM:617873 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35

MIM:617873 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35

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)