Ambiguous genitalia, Anencephaly, 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, Astigmatism, Ataxia, Autistic behavior, Behavioral abnormality, Bile duct proliferation, Biparietal narrowing, Blindness, Bowing of the long bones, Brainstem dysplasia, Cataract, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Chronic hepatic failure, Cirrhosis, Cleft palate, Cleft upper lip, Coloboma, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal ridge, Dilated fourth ventricle, Dyspnea, Elevated circulating hepatic transaminase concentration, Encephalocele, Feeding difficulties in infancy, Foot polydactyly, Full cheeks, Furrowed tongue, Gait disturbance, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Growth delay, Hand polydactyly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Highly arched eyebrow, Hydrocephalus, Hyperreflexia, Hypertelorism, Hypertension, Hypoplasia of the brainstem, Hypotonia, Intellectual disability, Intellectual disability, moderate, Intellectual disability, progressive, Intellectual disability, severe, 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, Occipital meningocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Optic disc coloboma, Orofacial cleft, Pancreatic cysts, Pancreatic fibrosis, Polycystic kidney dysplasia, Portal hypertension, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial hand polydactyly, Prominent nasal bridge, Psychomotor retardation, Ptosis, Pulmonary hypoplasia, Renal corticomedullary cysts, Renal cyst, Renal insufficiency, Renal tubular atrophy, Retinal dystrophy, Rod-cone dystrophy, Round face, Sclerocornea, Scoliosis, Seizure, Situs inversus totalis, Sloping forehead, Spasticity, Splenomegaly, Stage 5 chronic kidney disease, Strabismus, Tachypnea, Talipes equinovarus, Tremor, True hermaphroditism, Tubulointerstitial fibrosis, Undetectable electroretinogram, Ureteral duplication, Urethral atresia, Vascular dilatation, Ventriculomegaly, Visual impairment, Wide mouth

abnormal renal tubule epithelial cell primary cilium morphology, abnormal retina outer nuclear layer morphology, abnormal rostral-caudal axis patterning, abnormal tracheal ciliated epithelium morphology, abnormal vesicle-mediated transport, atrioventricular septal defect, biventricular, discordant atrioventricular connection, cellular phenotype, decreased embryo size, decreased embryonic cilium number, decreased embryonic neuroepithelium primary cilium number, decreased respiratory motile cilia number, double outlet right ventricle with atrioventricular septal defect, duplex kidney, focal dorsal hair loss, incomplete rostral neuropore closure, lethality throughout fetal growth and development, incomplete penetrance, situs inversus, superior-inferior ventricles, tricuspid valve atresia