combined oxidative phosphorylation deficiency 31

Summary

DOID:0111488 - combined oxidative phosphorylation deficiency 31

Disease Ontology Definition:A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12.

Synonyms: COXPD31, lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

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

: mipep

MIM:

MIM:617228 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31

MIM:617228 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31

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)