Term Name: mitochondrial complex IV deficiency nuclear type 7
Synonyms: MC4DN7
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12.
Ontology: Human Disease [DOID:0070494]   ( DOID:0070494 )

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