Abnormality of the hypothalamus-pituitary axis, Accessory oral frenulum, Accessory spleen, Aganglionic megacolon, Agenesis of cerebellar vermis, 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, Bilateral cryptorchidism, Bile duct proliferation, Biparietal narrowing, Blindness, Bowing of the long bones, Brachydactyly, Brainstem dysplasia, Broad nasal tip, Cataract, Central Y-shaped metacarpal, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Cleft palate, Cleft upper lip, Clinodactyly, Conductive hearing impairment, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Dilated fourth ventricle, Dolichocephaly, Dysgenesis of the cerebellar vermis, Dyspnea, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Esotropia, Failure to thrive, Feeding difficulties in infancy, Finger clinodactyly, Foot polydactyly, Frontal bossing, Full cheeks, Furrowed tongue, Gait disturbance, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Growth delay, Hamartoma of tongue, Hand polydactyly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, High palate, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypoplasia of olfactory tract, Hypoplasia of the brainstem, Hypoplastic male external genitalia, Hypothalamic hamartoma, Hypotonia, Impaired smooth pursuit, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Lobar holoprosencephaly, Lobulated tongue, Long face, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Male pseudohermaphroditism, Meningocele, Mesoaxial hand polydactyly, Mesoaxial polydactyly, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Midline notch of upper alveolar ridge, Molar tooth sign on MRI, Multicystic kidney dysplasia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nystagmus, Occipital meningocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic disc coloboma, Pancreatic cysts, Pancreatic fibrosis, Polycystic kidney dysplasia, Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Posteriorly rotated ears, Preaxial foot polydactyly, Preaxial hand polydactyly, Preaxial polydactyly, Prominent nasal bridge, Psychomotor retardation, Ptosis, Radial deviation of finger, Renal agenesis, Renal corticomedullary cysts, Renal cyst, Renal dysplasia, Renal hypoplasia/aplasia, Renal insufficiency, Renal tubular atrophy, Retinal dystrophy, Sclerocornea, Scoliosis, Seizure, Short stature, Situs inversus totalis, Sloping forehead, Stage 5 chronic kidney disease, Strabismus, Syndactyly, Tachypnea, Talipes equinovarus, Thickened superior cerebellar peduncle, Toe syndactyly, Tongue nodules, Tremor, True hermaphroditism, Tubulointerstitial fibrosis, Undetectable electroretinogram, Ureteral duplication, Urethral atresia, Visual impairment, Wide mouth