Brachycephaly, Broad philtrum, Bulbous nose, Cerebral hypomyelination, Clinodactyly, Coarse facial features, Cupped ear, Downturned corners of mouth, EEG with polyspike wave complexes, EEG with spike-wave complexes, Elevated circulating alkaline phosphatase concentration, Epicanthus, Esotropia, Gait disturbance, Gastrostomy tube feeding in infancy, Generalized non-motor (absence) seizure, Global developmental delay, Growth delay, Hepatic vein thrombosis, Hepatomegaly, High palate, Highly arched eyebrow, Hip dysplasia, Hydronephrosis, Hypermetropia, Hypertelorism, Hypsarrhythmia, Increased head circumference, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Long palpebral fissure, Macroglossia, Mandibular prognathia, Microcephaly, Micrognathia, Myoclonus, Oculomotor apraxia, Oligohydramnios, Pectus excavatum, Plagiocephaly, Portal hypertension, Portal vein thrombosis, Prominent nasal bridge, Reduced granulocyte CD59 level, Reduced tendon reflexes, Round face, Scoliosis, Seizure, Shallow anterior chamber, Short neck, Short philtrum, Shortening of all distal phalanges of the fingers, Single umbilical artery, Small nail, Splenomegaly, Supernumerary nipple, Telangiectasia, Tented upper lip vermilion, Thickened helices, Upslanted palpebral fissure, Venous thrombosis, Wide nasal bridge