Abdominal symptom, Abnormal axial skeleton morphology, Abnormal cortical gyration, Abnormal facial shape, Abnormal glucose homeostasis, Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of blood glucose concentration, Abnormality of branched chain family amino acid metabolism, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of cell physiology, Abnormality of dicarboxylic acid metabolism, Abnormality of fatty-acid metabolism, Abnormality of fontanelles, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of leucine metabolism, Abnormality of lipid metabolism, Abnormality of metabolism/homeostasis, Abnormality of mitochondrial metabolism, Abnormality of muscle physiology, Abnormality of neuronal migration, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior fontanelle, Abnormality of the anterior segment of the eye, Abnormality of the biliary system, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebral cortex, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the head, Abnormality of the integument, Abnormality of the kidney, Abnormality of the lens, Abnormality of the liver, Abnormality of the lung, Abnormality of the mitochondrion, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the outer ear, Abnormality of the periorbital region, Abnormality of the pinna, Abnormality of the renal tubule, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine glucose concentration, Abnormality of urine homeostasis, Abnormal muscle tone, Acidosis, Aciduria, All, Aminoaciduria, Aplasia/Hypoplasia of the lungs, Autosomal recessive inheritance, Cataract, Cholestasis, Coma, Congenital cataract, Defective dehydrogenation of isovaleryl CoA and butyryl CoA, Dermatological manifestations of systemic disorders, Dicarboxylic aciduria, Dyspnea, Electron transfer flavoprotein-ubiquinone oxidoreductase defect, Ethylmalonic aciduria, Functional respiratory abnormality, Generalized abnormality of skin, Generalized aminoaciduria, Gliosis, Glutaric acidemia, Glutaric aciduria, Glycosuria, Hepatic necrosis, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, High forehead, Hypoglycemia, Hypoglycemic coma, Jaundice, Large fontanelles, Macrocephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Muscular hypotonia, Nausea, Nausea and vomiting, Pachygyria, Phenotypic abnormality, Polycystic kidney dysplasia, Proximal tubulopathy, Pulmonary hypoplasia, Reduced consciousness/confusion, Renal cortical cysts, Renal cysts, Respiratory distress, Respiratory insufficiency, Selective proximal tubular damage, Telecanthus, Visceromegaly, Vomiting, Wide anterior fontanel.