Abnormality of thyroid physiology, Aggressive behavior, Anal atresia, Aplasia/Hypoplasia of the cerebellum, Astigmatism, Atrial septal defect, Attention deficit hyperactivity disorder, Autistic behavior, Babinski sign, Bifid uvula, Bilateral tonic-clonic seizure, Brachycephaly, Brain atrophy, Broad nasal tip, Broad thumb, Bulbous nose, Cardiomyopathy, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Choanal atresia, Cleft palate, Clinodactyly of the 2nd toe, Congenital hip dislocation, Curly hair, Curved fingers, Cyst of the ductus choledochus, Dandy-Walker malformation, Delayed eruption of teeth, Delayed puberty, Delayed speech and language development, Depigmentation/hyperpigmentation of skin, Depressed nasal bridge, Difficulty walking, Dilated fourth ventricle, Downslanted palpebral fissures, Drooling, Facial asymmetry, Facial palsy, Feeding difficulties, Flared nostrils, Generalized hypotonia, Generalized non-motor (absence) seizure, Gingival overgrowth, Global developmental delay, Hallux valgus, Hearing impairment, High palate, Hip dislocation, Hip dysplasia, Hydronephrosis, Hyperextensible thumb, Hypermetropia, Hypertrichosis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplastic nipples, Hypotelorism, Hypotonia, Infantile muscular hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, severe, Limitation of joint mobility, Long palpebral fissure, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lower limb asymmetry, Macrocephaly, Meckel diverticulum, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Myopia, Narrow forehead, Neoplasm, Obesity, Osteopenia, Overlapping toe, Patellar subluxation, Patent ductus arteriosus, Periorbital fullness, Pes cavus, Pes planus, Poor speech, Postaxial polydactyly, Posteriorly rotated ears, Prominent forehead, Prominent nasolabial fold, Prominent nose, Pyloric stenosis, Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Renal dysplasia, Respiratory distress, Sacral dimple, Scoliosis, Seizure, Short foot, Short palpebral fissure, Short stature, Shortening of all distal phalanges of the fingers, Slender finger, Small for gestational age, Small hand, Smooth philtrum, Strabismus, Tapered finger, Telecanthus, Thick lower lip vermilion, Thick vermilion border, Thin upper lip vermilion, Thoracolumbar scoliosis, Tooth malposition, Unilateral breast hypoplasia, Upslanted palpebral fissure, Urinary incontinence, Ventriculomegaly, Wide nasal base, Wide nasal bridge, Widened subarachnoid space, obsolete Joint laxity