Term Name: combined oxidative phosphorylation deficiency 6
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 )

Relationships
is a type of: combined oxidative phosphorylation deficiency X-linked recessive disease