Mondo Description Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.

Uniprot Description A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.

Disease Ontology Description A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATP5E gene on chromosome 20q13.