Term Name: mitochondrial complex IV deficiency nuclear type 19
Synonyms: MC4DN19
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23.
Ontology: Human Disease [DOID:0070504]   ( DOID:0070504 )

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