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DOID:0080360 - mitochondrial complex IV deficiency nuclear type 13
Disease Ontology Definition:A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
Synonyms: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4, MC4DN13
Xenbase Genes
:
coa6
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
COX deficiency, infantile mitochondrial myopathy (is_a)