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Summary Literature (0)
MIM:604273 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Xenbase Genes: atpaf2, tmem70

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011421 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
MONDO:0014471 - mitochondrial proton-transporting ATP synthase complex deficiency

Disease Ontology (DO):
DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency nuclear type 1