Term Name: mitochondrial complex IV deficiency nuclear type 12
Synonyms: MC4DN12
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2.
Ontology: Human Disease [DOID:0070498]   ( DOID:0070498 )

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