Term Name: mitochondrial complex IV deficiency nuclear type 20
Synonyms: MC4DN20
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.
Ontology: Human Disease [DOID:0070505]   ( DOID:0070505 )

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