Athetosis, Autistic behavior, Bifid uvula, Bilateral tonic-clonic seizure, Brachycephaly, Broad nasal tip, Broad philtrum, Bulbous nose, Cerebral cortical atrophy, Cerebral hypomyelination, Cleft palate, Cleft upper lip, Clinodactyly, Coarse facial features, Constipation, Cupped ear, Delayed myelination, Delayed ossification of carpal bones, Delayed speech and language development, Downturned corners of mouth, EEG with polyspike wave complexes, EEG with spike-wave complexes, Elevated circulating alkaline phosphatase concentration, Epicanthus, Esotropia, Feeding difficulties, Floppy infant, Gait disturbance, Gastrostomy tube feeding in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Highly arched eyebrow, High palate, Hip dysplasia, Hydrocephalus, Hydronephrosis, Hyperconvex nail, Hypermetropia, Hypertelorism, Hypotonia, Increased head circumference, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Long palpebral fissure, Malar flattening, Mandibular prognathia, Microcephaly, Micrognathia, Midface retrusion, Myoclonus, obsolete Psychomotor retardation, Oculomotor apraxia, Oligohydramnios, Pectus excavatum, Plagiocephaly, Posteriorly rotated ears, Prominent nasal bridge, Reduced tendon reflexes, Round face, Scoliosis, Seizure, Sensorineural hearing impairment, Shallow anterior chamber, Short distal phalanx of finger, Shortening of all distal phalanges of the fingers, Short neck, Short nose, Short philtrum, Short toe, Single umbilical artery, Small nail, Supernumerary nipple, Tapered finger, Telangiectasia, Tented upper lip vermilion, Thickened helices, Thin upper lip vermilion, Upslanted palpebral fissure, Wide nasal bridge