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combined oxidative phosphorylation deficiency 6
Summary
- Synonym
-
- COXPD6
- Mitochondrial encephalomyopathy due to COXPD6
- Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
- 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.
- Super Class
- X-linked recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111502
- Mondo Disease Ontology
- ORDO
- OMIM
