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Summary Literature (0)
MIM:604377 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2; MC4DN2

Xenbase Genes: sco2

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011451 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
MONDO:0015487 - fatal infantile encephalocardiomyopathy

Disease Ontology (DO):
DOID:0050713 - COX deficiency, infantile mitochondrial myopathy
DOID:0080357 - mitochondrial complex IV deficiency nuclear type 2