Anemia, Anencephaly, Anisocoria, Anophthalmia, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the tongue, Apnea, Asplenia, Ataxia, Bile duct proliferation, Biparietal narrowing, Blindness, Bowing of the long bones, Breathing dysregulation, Cataract, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Chronic hepatic failure, Cirrhosis, Cleft palate, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal ridge, Elevated circulating hepatic transaminase concentration, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Episodic tachypnea, Feeding difficulties in infancy, Foot polydactyly, Full cheeks, Furrowed tongue, Gait disturbance, Generalized hypotonia, Global developmental delay, Growth delay, Hand polydactyly, Hepatic fibrosis, Hepatomegaly, Highly arched eyebrow, Hydrocephalus, Hyperreflexia, Hypertelorism, Hypertension, Hypotonia, Intellectual disability, Intellectual disability, moderate, Intrahepatic biliary atresia, Iris coloboma, Lobar holoprosencephaly, Long face, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Male pseudohermaphroditism, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Multiple small medullary renal cysts, Neoplasm of the liver, Nephronophthisis, Nephropathy, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic disc coloboma, Orofacial cleft, Pancreatic cysts, Pancreatic fibrosis, Polydactyly, Polydipsia, Polymicrogyria, Polyuria, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial hand polydactyly, Prominent nasal bridge, Psychomotor retardation, Ptosis, Renal corticomedullary cysts, Renal insufficiency, Renal tubular atrophy, Retinal degeneration, Round face, Sclerocornea, Scoliosis, Seizure, Situs inversus totalis, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Strabismus, Talipes equinovarus, Thickened superior cerebellar peduncle, Tremor, True hermaphroditism, Tubular basement membrane disintegration, Ureteral duplication, Urethral atresia, Vascular dilatation, Visual impairment, Wide mouth

abnormal posterior cranial fossa morphology, abnormal renal tubule epithelial cell primary cilium morphology, abnormal roof plate morphology, abnormal tegmentum morphology, absent anterior commissure, absent embryonic cilia, atrioventricular septal defect, cellular phenotype, decreased forebrain size, decreased hindbrain size, incomplete rostral neuropore closure, increased forebrain size, limbs/digits/tail phenotype, mandible hypoplasia, neonatal lethality, incomplete penetrance, postnatal lethality, postnatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, right-sided stomach, situs inversus with levocardia, small cerebellum