Acute hepatic failure, Agenesis of corpus callosum, Anal atresia, Anteverted nares, Apneic episodes precipitated by illness, fatigue, stress, Ascites, Atrial septal defect, Atrioventricular canal defect, Basal ganglia cysts, Brachydactyly, Broad skull, Budd-Chiari syndrome, Cataract, Cerebral atrophy, Cholecystitis, Choreoathetosis, Chronic lactic acidosis, Cirrhosis, Conductive hearing impairment, Congenital hip dislocation, Coronal cleft vertebrae, Crumpled ear, Cryptorchidism, Decreased activity of the pyruvate dehydrogenase complex, Deep venous thrombosis, Delayed eruption of teeth, Delayed ossification of carpal bones, Delayed skeletal maturation, Depressed nasal bridge, Developmental cataract, Dystonia, Elevated circulating hepatic transaminase concentration, Enamel hypoplasia, Epicanthus, Episodic ataxia, Esophageal varix, Extrahepatic biliary duct atresia, Fever, Flared nostrils, Flat face, Frontal bossing, Gastroesophageal reflux, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Generalized hypotonia, Generalized joint hypermobility, Genu valgum, Global developmental delay, Hepatocellular carcinoma, Hepatomegaly, Hydroureter, Hyperalaninemia, Hypercoagulability, Hypoplasia of the corpus callosum, Hypoplasia of the odontoid process, Hypotonia, Increased circulating lactate concentration, Increased CSF lactate, Intellectual disability, Intestinal obstruction, Jaundice, Lethargy, Long philtrum, Lumbar scoliosis, Malabsorption, Metaphyseal dysplasia, Microcephaly, Midline defect of the nose, Motor delay, Nystagmus, obsolete Joint hyperflexibility, obsolete Psychomotor retardation, Omphalocele, Overfolded helix, Peritonitis, Pes valgus, Polyhydramnios, Portal hypertension, Preeclampsia, Prolonged partial thromboplastin time, Proximal placement of thumb, Ptosis, Rectovaginal fistula, Recurrent spontaneous abortion, Resistance to activated protein C, Scoliosis, Seizure, Sensorineural hearing impairment, Severe lactic acidosis, Short humerus, Short metacarpal, Short nose, Short phalanx of finger, Short stature, Small for gestational age, Splenomegaly, Squared iliac bones, Strabismus, Stroke, Ventricular septal defect, Ventriculomegaly, Vocal cord paresis, Weight loss, Wide nasal bridge