Term Name: mitochondrial complex IV deficiency nuclear type 16
Synonyms: MC4DN16
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1.
Ontology: Human Disease [DOID:0070501]   ( DOID:0070501 )

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