mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (MONDO_0011421, a Monarch Disease Ontology id) is any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene. Also known as: ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency, MC5DN1, mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2.