combined oxidative phosphorylation deficiency 6

Term ID

DOID:0111502

Synonyms

• COXPD6
• Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
• Mitochondrial encephalomyopathy due to COXPD6
• severe X-linked mitochondrial encephalomyopathy

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. https://www.ncbi.nlm.nih.gov/pubmed/20362274

References

• OMIM:300816
• ORDO:238329

Ontology

Human Disease   ( DOID:0111502 )