Accessory oral frenulum, Agenesis of corpus callosum, Anteverted nares, Atrial septal defect, Atypical scarring of skin, Biparietal narrowing, Blindness, Broad alveolar ridges, Broad palm, Camptodactyly, Camptodactyly of finger, Cataract, Cerebral cortical atrophy, Cleft palate, Cleft upper lip, Conductive hearing impairment, Constriction of peripheral visual field, Convex nasal ridge, Dandy-Walker malformation, Deep palmar crease, Deep plantar creases, Delayed peripheral myelination, Depressed nasal bridge, Dislocated radial head, Dysphagia, Elbow dislocation, Facial hemangioma, Failure to thrive, Feeding difficulties, Fever, Flexion contracture, Full cheeks, Gastroesophageal reflux, Generalized hypotonia, Glaucoma, Global developmental delay, Gray matter heterotopia, Hearing impairment, High palate, Hirsutism, Hyperechogenic pancreas, Hyperinsulinemia, Hyperreflexia, Hypertelorism, Hypertrichosis, Hypogonadism, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypotonia, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intestinal malrotation, Intrauterine growth retardation, Joint dislocation, Keratoconus, Limitation of joint mobility, Long face, Low anterior hairline, Low-set ears, Mesomelic/rhizomelic limb shortening, Microcephaly, Micrognathia, Myopia, Narrow chest, Narrow forehead, Narrow palate, Nevus flammeus, Nevus flammeus of the forehead, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Overlapping toe, Pallor, Photophobia, Platyspondyly, Polyhydramnios, Posteriorly rotated ears, Progressive night blindness, Prominent forehead, Prominent metopic ridge, Proptosis, Respiratory distress, Retinopathy, Retrognathia, Rod-cone dystrophy, Sacral dimple, Seizure, Sensorineural hearing impairment, Short foot, Short stature, Short thorax, Short toe, Strabismus, Supernumerary nipple, Syndactyly, Synophrys, Talipes equinovarus, Tapered finger, Thick hair, Trigonocephaly, Type II diabetes mellitus, Ulnar deviation of finger, Ulnar deviation of the wrist, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Visual impairment, Wide intermamillary distance, Wide nasal bridge