mitochondrial complex IV deficiency nuclear type 2 (DOID:0080357)
Alliance: disease page
Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1; MC4DN2
Alt IDs: OMIM:604377, UMLS_CUI:C5399977
Definition: A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.