Term Name: mitochondrial complex IV deficiency nuclear type 13
Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4, MC4DN13
Definition: A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
Ontology: Human Disease [DOID:0080360]   ( DOID:0080360 )

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