Clubbing of toes, Compulsive behaviors, Cryptorchidism, Deep philtrum, Deeply set eye, Delayed gross motor development, Depressed nasal bridge, Developmental cataract, Double outlet right ventricle, Downturned corners of mouth, Dry skin, Echolalia, Generalized hirsutism, Hearing impairment, High forehead, Hirsutism, Hypertelorism, Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Hypospadias, Increased body weight, Intellectual disability, Intellectual disability, moderate, Intellectual disability, severe, Low hanging columella, Low posterior hairline, Lower extremity joint dislocation, Lumbar hypertrichosis, Macrocephaly, Macrotia, Malar flattening, Micropenis, Midface retrusion, Mitral stenosis, Nail dysplasia, Nail dystrophy, Neonatal hyperbilirubinemia, Neutropenia, Oligohydramnios, Overlapping toe, Patchy hypo- and hyperpigmentation, Patent ductus arteriosus, Patent foramen ovale, Peripheral pulmonary artery stenosis, Pes cavus, Pes planus, Poor speech, Preauricular pit, Prominent supraorbital ridges, Pulmonary arterial hypertension, Recurrent cutaneous abscess formation, Recurrent ear infections, Recurrent respiratory infections, Regional abnormality of skin, Seizure, Short foot, Short neck, Spotty hypopigmentation, Strabismus, Synophrys, Tetralogy of Fallot, Thin vermilion border, Underdeveloped nasal alae, Upslanted palpebral fissure, Ventricular septal defect, Vesicoureteral reflux, Wide intermamillary distance, Wide mouth