GRACILE syndrome (Growth Restriction, Aminoaciduria, Cholestasis, Iron overload in the liver, Lactic acidosis, Early death) is a neonatally lethal mitochondrial disease caused by a homozygous missense mutation in BCS1L (c.A232G, p.S78G), which encodes the translocase required for the incorporation of Rieske iron-sulfur protein (RISP, UQRCFS1) into respiratory complex III (CIII)20. Here, UQCRFS1 is linked to mitochondrial disease.