mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
MONDO:0000066
mitochondrial respiratory chain complex deficiency
is_a
MONDO:0014471
mitochondrial proton-transporting ATP synthase complex deficiency
is_a
ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency
exact
Complex 5 mitochondrial respiratory chain deficiency
related
MC5DN1
exact
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
exact
mitochondrial complex V deficiency
broad
mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2
exact
SPAC9.12c