Bifid uvula, Bilateral tonic-clonic seizure, Brachycephaly, Broad hallux, Broad nasal tip, Broad philtrum, Bulbous nose, Cerebral hypomyelination, Cleft palate, Clinodactyly, Coarse facial features, Cupped ear, 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, Gait disturbance, Gastrostomy tube feeding in infancy, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, High palate, Highly arched eyebrow, Hip dysplasia, Hydronephrosis, Hypermetropia, Hypertelorism, Hypotonia, Increased head circumference, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Long palpebral fissure, Mandibular prognathia, Microcephaly, Micrognathia, Myoclonus, Oculomotor apraxia, Oligohydramnios, Pectus excavatum, Plagiocephaly, Prominent nasal bridge, Reduced tendon reflexes, Round face, Scoliosis, Seizure, Shallow anterior chamber, Short neck, Short nose, Short philtrum, Shortening of all distal phalanges of the fingers, Single umbilical artery, Small nail, Supernumerary nipple, Telangiectasia, Tented upper lip vermilion, Thickened helices, Upslanted palpebral fissure, Ventriculomegaly, Vesicoureteral reflux, Wide nasal bridge