Term Name: mitochondrial complex IV deficiency nuclear type 21
Synonyms: MC4DN21
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3.
Ontology: Human Disease [DOID:0070506]   ( DOID:0070506 )

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