Term Name: mitochondrial complex IV deficiency nuclear type 22
Synonyms: MC4DN22
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2.
Ontology: Human Disease [DOID:0070507]   ( DOID:0070507 )

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