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, Gait disturbance, Gastrostomy tube feeding in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, High palate, Highly arched eyebrow, Hip dysplasia, Hydrocephalus, Hydronephrosis, Hyperconvex nail, Hypermetropia, Hypertelorism, Hypotonia, Increased head circumference, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Long palpebral fissure, Malar flattening, Mandibular prognathia, Microcephaly, Micrognathia, Midface retrusion, Myoclonus, Oculomotor apraxia, Oligohydramnios, Pectus excavatum, Plagiocephaly, Posteriorly rotated ears, Prominent nasal bridge, Psychomotor retardation, Reduced tendon reflexes, Round face, Scoliosis, Seizure, Sensorineural hearing impairment, Shallow anterior chamber, Short distal phalanx of finger, Short neck, Short nose, Short philtrum, Short toe, Shortening of all distal phalanges of the fingers, 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