Term Name: | combined oxidative phosphorylation deficiency 6 |
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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. |
Ontology: | Human Disease [DOID:0111502] ( DOID:0111502 ) |