Aganglionic megacolon, Anteriorly placed anus, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle, Ataxia, Autism, Autistic behavior, Bifid uvula, Bilateral tonic-clonic seizure, Brachycephaly, Broad 2nd toe, Broad philtrum, Broad-based gait, Bulbous nose, Camptodactyly, Cerebral atrophy, Cerebral cortical atrophy, Cerebral hypomyelination, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Clubbing of toes, Coarse facial features, Conductive hearing impairment, Contracture of the proximal interphalangeal joint of the 5th finger, Corneal opacity, Cupped ear, Depressed nasal bridge, Depressed nasal ridge, Downturned corners of mouth, Duplicated collecting system, EEG with polyspike wave complexes, EEG with spike-wave complexes, Elevated circulating alkaline phosphatase concentration, Epicanthus, Erythema, Esotropia, Fine hair, Frontal bossing, Gait disturbance, Gastrostomy tube feeding in infancy, Generalized hypotonia, Global developmental delay, Growth abnormality, Growth delay, Hearing impairment, High palate, Highly arched eyebrow, Hip dislocation, Hip dysplasia, Hydronephrosis, Hyperkeratosis, Hypermetropia, Hypertelorism, Hypodontia, Hypoplastic nipples, Hypotonia, Ichthyosis, Increased head circumference, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Joint contracture of the hand, Large for gestational age, Large hands, Long foot, Long palpebral fissure, Low-set nipples, Mandibular prognathia, Microcephaly, Microdontia, Micrognathia, Myoclonus, Oculomotor apraxia, Oligohydramnios, Osteolysis, Overfolded helix, Palmoplantar hyperkeratosis, Pectus excavatum, Peripheral pulmonary artery stenosis, Plagiocephaly, Prominent forehead, Prominent nasal bridge, Ptosis, Pulmonary valve atresia, Reduced tendon reflexes, Retinal coloboma, Round face, Scoliosis, Seizure, Shallow anterior chamber, Short foot, Short neck, Short palm, Short philtrum, Shortening of all distal phalanges of the fingers, Single umbilical artery, Skin ulcer, Small nail, Sparse hair, Strabismus, Supernumerary nipple, Supernumerary tooth, Tall stature, Telangiectasia, Tented upper lip vermilion, Tetralogy of Fallot, Thick lower lip vermilion, Thick vermilion border, Thickened helices, Transposition of the great arteries, Upslanted palpebral fissure, Ureteropelvic junction obstruction, Ventricular septal defect, Violent behavior, Webbed neck, Wide mouth, Wide nasal bridge, Widely spaced teeth, obsolete Hypotrichosis