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Summary Literature (0)
MIM:615228 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B; MC5DN4B

Xenbase Genes: atp5f1a

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014091 - MYZAP
MONDO:0014471 - mitochondrial proton-transporting ATP synthase complex deficiency

Disease Ontology (DO):
DOID:0060333 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4
DOID:0070462 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4B