Anencephaly, Anophthalmia, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the tongue, Apnea, Asplenia, Ataxia, Biparietal narrowing, Bowing of the long bones, Cataract, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal ridge, Dysmetria, Encephalocele, Episodic tachypnea, Feeding difficulties in infancy, Foot polydactyly, Full cheeks, Furrowed tongue, Gait disturbance, Generalized hypotonia, Global developmental delay, Hand polydactyly, Highly arched eyebrow, Hydrocephalus, Hypermetropia, Hyperreflexia, Hypertelorism, Hypotonia, Intellectual disability, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Male pseudohermaphroditism, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Nystagmus, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Orofacial cleft, Pachygyria, Pancreatic cysts, Pancreatic fibrosis, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial hand polydactyly, Prominent nasal bridge, Ptosis, Sclerocornea, Scoliosis, Seizure, Situs inversus totalis, Sloping forehead, Spasticity, Strabismus, Talipes equinovarus, Tremor, True hermaphroditism, Ureteral duplication, Urethral atresia