Term Name: mitochondrial complex IV deficiency nuclear type 9
Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3, MC4DN9
Definition: A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.
Ontology: Human Disease [DOID:0080359]   ( DOID:0080359 )

Relationships
is a type of: autosomal recessive disease COX deficiency, infantile mitochondrial myopathy