Term Name: mitochondrial complex IV deficiency nuclear type 6
Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2, MC4DN6
Definition: A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.
Ontology: Human Disease [DOID:0080358]   ( DOID:0080358 )

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