Term Name: mitochondrial complex IV deficiency nuclear type 3
Synonyms: MC4DN3
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12.
Ontology: Human Disease [DOID:0070492]   ( DOID:0070492 )

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