Congestive heart failure, Cryptorchidism, Decreased testicular size, Delayed gross motor development, Developmental regression, Diaphragmatic eventration, Dilated cardiomyopathy, Dyskinesia, Dystonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Generalized amyotrophy, Growth delay, Hypochromic microcytic anemia, Hypoplasia of penis, Hypospadias, Hypothyroidism, Increased circulating lactate concentration, Intellectual disability, Intrauterine growth retardation, Lower limb spasticity, Microvesicular hepatic steatosis, Muscle weakness, Muscular ventricular septal defect, Neonatal hypoglycemia, Neonatal hypotonia, Neurodevelopmental delay, Noncompaction cardiomyopathy, Nonprogressive cerebellar ataxia, Normochromic microcytic anemia, Optic atrophy, Perineal hypospadias, Prolonged QT interval, Repetitive compulsive behavior, Seizure, Sudden cardiac death