Aplasia/Hypoplasia of the corpus callosum, Apnea, Ataxia, Bilateral cryptorchidism, Biparietal narrowing, Brachydactyly, Broad nasal tip, Central Y-shaped metacarpal, Cerebellar vermis hypoplasia, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Encephalocele, Epicanthus, Episodic tachypnea, Esotropia, Failure to thrive, Feeding difficulties in infancy, Finger clinodactyly, Foot polydactyly, Frontal bossing, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hamartoma of tongue, Hand polydactyly, High palate, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hyperventilation, Hypoplasia of olfactory tract, Hypothalamic hamartoma, Hypotonia, Intellectual disability, Iris coloboma, Lobulated tongue, Long face, Low-set ears, Low-set, posteriorly rotated ears, Mesoaxial hand polydactyly, Mesoaxial polydactyly, Micrognathia, Midline notch of upper alveolar ridge, Molar tooth sign on MRI, Nystagmus, Oculomotor apraxia, Orofacial cleft, Polydactyly, Polymicrogyria, Postaxial polydactyly, Posteriorly rotated ears, Preaxial foot polydactyly, Preaxial hand polydactyly, Preaxial polydactyly, Prominent nasal bridge, Ptosis, Radial deviation of finger, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Scoliosis, Seizure, Short stature, Situs inversus totalis, Strabismus, Syndactyly, Toe syndactyly, Tongue nodules, Tremor