Associated phenotypes of these 6 variants are described as follows: three variants of ETFDH (c.473T>G(p.Val158Gly); c.812 A>G(p.Tyr271Cys); c.953T>C(p.Leu318Pro) were identified in 2 patients with glutaric acidemia, two variant of NDUFAF5 (c.836T>G(p.Met279Arg); c.145C>G(p.Arg49Gly) in a proband with mitochondrial complex 1 deficiency, and one variant of MAGEL2 (c.1628delC, p.Pro543Leufs*159) in a patient with Schaaf-Yang syndrome. The gene discussed is MAGEL2; the disease is Schaaf-Yang syndrome.