Mondo Description Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A 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 ATP5A1 gene on chromosome 18q.