Abnormality of the tongue, Absent crus of helix, Absent testis, Accessory oral frenulum, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the mandible, Aplasia/Hypoplasia of the tibia, Apnea, Ataxia, Bifid uvula, Bilateral cryptorchidism, Bilateral lung agenesis, Biparietal narrowing, Brachydactyly, Broad nasal tip, Camptodactyly, Camptodactyly of finger, Central Y-shaped metacarpal, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Choanal atresia, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Decreased testicular size, Depressed nasal ridge, Epicanthus, Episodic tachypnea, Esotropia, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Finger clinodactyly, Finger syndactyly, Foot polydactyly, Frontal bossing, Gait disturbance, Generalized hypotonia, Genu varum, Global developmental delay, Growth delay, Hamartoma, Hamartoma of tongue, Hand polydactyly, High palate, High, narrow palate, Highly arched eyebrow, Horseshoe kidney, Hypertelorism, Hypoplasia of olfactory tract, Hypoplastic toenails, Hypothalamic hamartoma, Hypotonia, Intellectual disability, Intrauterine growth retardation, Joint dislocation, Kyphoscoliosis, Laryngomalacia, Lobulated tongue, Long face, Low-set ears, Low-set, posteriorly rotated ears, Median cleft upper lip, Mesoaxial hand polydactyly, Mesoaxial polydactyly, Microcephaly, Micrognathia, Micromelia, Microtia, third degree, Midline notch of upper alveolar ridge, Molar tooth sign on MRI, Monorchism, Nystagmus, Oligohydramnios, Oral synechia, Orofacial cleft, Pectus excavatum, Perineal fistula, Polydactyly, Porencephalic cyst, Postaxial hand polydactyly, Postaxial polydactyly, Posteriorly rotated ears, Preaxial foot polydactyly, Preaxial hand polydactyly, Preaxial polydactyly, Primary adrenal insufficiency, Prominent nasal bridge, Proptosis, Pulmonary hypoplasia, Radial deviation of finger, Rectal atresia, Rectovaginal fistula, Recurrent respiratory infections, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Retrognathia, Seizure, Severe short stature, Short finger, Short nose, Short philtrum, Short stature, Short tibia, Specific learning disability, Split hand, Subcortical cerebral atrophy, Submucous cleft hard palate, Syndactyly, Toe syndactyly, Tongue nodules, Tremor, Ventricular septal defect, Wide nose, obsolete Joint laxity