Difficulty climbing stairs, Diffuse hepatic steatosis, Dilated cardiomyopathy, Distal peripheral sensory neuropathy, Elevated hepatic transaminase, Equinovarus deformity, Equinus calcaneus, Exercise intolerance, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Frequent falls, Generalized hypotonia, Generalized muscle weakness, Global developmental delay, Hydrops fetalis, Hyperammonemia, Hypocalcemia, Hypoketotic hypoglycemia, Hypoparathyroidism, Hypotonia, Lactic acidosis, Left ventricular hypertrophy, Lethargy, Lower limb muscle weakness, Mitral regurgitation, Motor delay, Muscle spasm, Muscle weakness, Myalgia, Myoglobinuria, Myopathy, Peripheral neuropathy, Pes cavus, Pigmentary retinopathy, Poor suck, Prenatal maternal abnormality, Primitive reflex, Progressive distal muscle weakness, Respiratory insufficiency, Rhabdomyolysis, Rigors, Seizure, Sensorimotor neuropathy, Skeletal myopathy, Small for gestational age, Tricuspid regurgitation, obsolete Toe walking