Term Name: mitochondrial complex IV deficiency nuclear type 18
Synonyms: MC4DN18
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.
Ontology: Human Disease [DOID:0070503]   ( DOID:0070503 )

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