Term Name: mitochondrial complex IV deficiency nuclear type 14
Synonyms: MC4DN14
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2.
Ontology: Human Disease [DOID:0070499]   ( DOID:0070499 )

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