Agenesis of cerebellar vermis, Aggressive behavior, Ambiguous genitalia, Anencephaly, Anophthalmia, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the tongue, Apnea, Asplenia, Ataxia, Autistic behavior, Behavioral abnormality, Bifid tongue, Bifid uvula, Biparietal narrowing, Blindness, Bowing of the long bones, Brainstem dysplasia, Bulbous nose, Cataract, Cerebellar vermis hypoplasia, Cherry red spot of the macula, Chorioretinal coloboma, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal ridge, Diarrhea, Dilated fourth ventricle, Dyspnea, Encephalocele, Exotropia, Focal seizure with eyelid myoclonia, Foot polydactyly, Full cheeks, Furrowed tongue, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Hamartoma of tongue, Hand polydactyly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Highly arched eyebrow, Hydrocephalus, Hyperconvex nail, Hypertelorism, Hypoplasia of the brainstem, Hypotonia, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Iris coloboma, Irregular dentition, Kyphosis, Lobar holoprosencephaly, Lobulated tongue, Long face, Low-set ears, Low-set, posteriorly rotated ears, Male pseudohermaphroditism, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Myoclonus, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Occipital meningocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pancreatic cysts, Pancreatic fibrosis, Pectus excavatum, Polycystic kidney dysplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Preaxial hand polydactyly, Prominent nasal bridge, Psychomotor retardation, Ptosis, Renal corticomedullary cysts, Renal cyst, Renal insufficiency, Renal tubular atrophy, Respiratory insufficiency, Retinal dystrophy, Retinopathy, Sclerocornea, Scoliosis, Seesaw nystagmus, Seizure, Self-mutilation, Short sternum, Situs inversus totalis, Sloping forehead, Spasticity, Stage 5 chronic kidney disease, Strabismus, Supernumerary tooth, Suprasellar arachnoid cyst, Syndactyly, Tachypnea, Talipes equinovarus, Thoracic kyphosis, Tongue nodules, True hermaphroditism, Tubulointerstitial fibrosis, Undetectable electroretinogram, Ureteral duplication, Urethral atresia, Visual impairment, Wide mouth