Term Name: mitochondrial complex IV deficiency nuclear type 1
Synonyms: MC4DN1
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.
Ontology: Human Disease [DOID:0070491]   ( DOID:0070491 )

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