Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.
Comprehensive, easy-to-understand information about this condition
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mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
MONDO:0011421
mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
MONDO:0013546
mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
MONDO:0014091
mitochondrial complex III deficiency
MONDO:0015448
combined oxidative phosphorylation deficiency 22
MONDO:0020727
mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
MONDO:0020858