Term Name:	mitochondrial complex IV deficiency nuclear type 2
Synonyms:	fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1, MC4DN2
Definition:	A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.
Ontology:	Human Disease [DOID:0080357]   ( DOID:0080357 )