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, Atrial septal defect, Autistic behavior, Behavioral abnormality, Bile duct proliferation, Biparietal narrowing, Blindness, Bowing of the long bones, Brainstem dysplasia, Cataract, Central apnea, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Chronic kidney disease, Cleft palate, Cone-shaped epiphysis, Congenital blindness, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal ridge, Dilated fourth ventricle, Downslanted palpebral fissures, Dyspnea, Encephalocele, Episodic tachypnea, Finger syndactyly, Foot polydactyly, Full cheeks, Furrowed tongue, Generalized hirsutism, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Hand polydactyly, Hearing impairment, Hemiplegia/hemiparesis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Hypogonadism, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Hypoplasia of the ovary, Hyposmia, Hypotonia, Impaired renal concentrating ability, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrauterine growth retardation, Iris coloboma, Keratoconus, Lobar holoprosencephaly, Long face, Low-set, posteriorly rotated ears, Male pseudohermaphroditism, Medial flaring of the eyebrow, Meningocele, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Neonatal breathing dysregulation, Nephronophthisis, Nephropathy, Nephrotic syndrome, Neurological speech impairment, Nystagmus, Obesity, Occipital meningocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pancreatic cysts, Pancreatic fibrosis, Pigmentary retinopathy, Polycystic kidney dysplasia, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial hand polydactyly, Premature ovarian insufficiency, Progressive visual loss, Prominent nasal bridge, Psychomotor retardation, Ptosis, Reduced visual acuity, Renal cortical cysts, Renal corticomedullary cysts, Renal cyst, Renal insufficiency, Renal tubular atrophy, Retinal coloboma, Retinal dystrophy, Rod-cone dystrophy, Sclerocornea, Scoliosis, Seizure, Severely reduced visual acuity, Short neck, Short stature, Situs inversus totalis, Skeletal muscle atrophy, Sloping forehead, Stage 5 chronic kidney disease, Strabismus, Tachypnea, Talipes equinovarus, Thickened superior cerebellar peduncle, True hermaphroditism, Tubulointerstitial fibrosis, Undetectable electroretinogram, Ureteral duplication, Urethral atresia, Ventricular septal defect, Visual impairment, Wide mouth

abnormal renal tubule epithelial cell primary cilium morphology, abnormal retina photoreceptor morphology, abnormal retina pigment epithelium morphology, abnormal rod electrophysiology, absent kidney epithelial cell primary cilium, atrioventricular septal defect, d-loop transposition of the great arteries, decreased body size, dual inferior vena cava, left-sided isomerism, liver/biliary system phenotype, nervous system phenotype, photoreceptor inner segment degeneration, photoreceptor outer segment degeneration, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, reduced cerebellar foliation, renal glomerulus cyst, retina cone cell degeneration, retina outer nuclear layer degeneration, retina photoreceptor degeneration, retina rod cell degeneration, retina spots, short photoreceptor outer segment, slow postnatal weight gain, thin retina outer nuclear layer