Autistic behavior, Axial hypotonia, Bifid uvula, Bilateral tonic-clonic seizure, Brachycephaly, Broad philtrum, Bulbous nose, Cerebral hypomyelination, Cerebral visual impairment, Clinodactyly, Coarse facial features, Cupped ear, Deeply set eye, Delayed speech and language development, Depressed nasal bridge, Developmental cataract, Developmental regression, Disproportionate short-limb short stature, Downturned corners of mouth, EEG with multifocal slow activity, EEG with polyspike wave complexes, EEG with spike-wave complexes, Echogenic fetal bowel, Elbow flexion contracture, Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase concentration, Epicanthus, Esotropia, Feeding difficulties, Flexion contracture, Gait disturbance, Gastrostomy tube feeding in infancy, Global developmental delay, Growth delay, High palate, Highly arched eyebrow, Hip contracture, Hip dysplasia, Hydronephrosis, Hyperactivity, Hypermetropia, Hypertelorism, Increased head circumference, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Knee flexion contracture, Large earlobe, Long palpebral fissure, Mandibular prognathia, Microcephaly, Micrognathia, Myoclonus, Narrow forehead, Oculomotor apraxia, Oligohydramnios, Osteopenia, Pectus excavatum, Plagiocephaly, Polyhydramnios, Prominent nasal bridge, Prominent nasal tip, Reduced tendon reflexes, Round face, Scoliosis, Seizure, Shallow anterior chamber, Short attention span, Short neck, Short philtrum, Shortening of all distal phalanges of the fingers, Single umbilical artery, Small nail, Strabismus, Supernumerary nipple, Telangiectasia, Tented upper lip vermilion, Thickened helices, Upslanted palpebral fissure, Vascular dilatation, Vomiting, Wide mouth, Wide nasal bridge