mitochondrial complex IV deficiency nuclear type 6 (DOID:0080358)
Alliance: disease page
Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2; MC4DN6
Alt IDs: OMIM:615119, UMLS_CUI:C3554534
Definition: A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.