Ataxia, Autistic behavior, Behavioral abnormality, Biparietal narrowing, Blindness, Brainstem dysplasia, Cerebellar vermis hypoplasia, Cholestasis, Chorioretinal coloboma, Dilated fourth ventricle, Dyspnea, Encephalocele, Enlarged kidney, Foot polydactyly, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Hand polydactyly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Highly arched eyebrow, Hydrocephalus, Hypertrophic cardiomyopathy, Hypoplasia of the brainstem, Hypotonia, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Iris coloboma, Long face, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Nephronophthisis, Nephropathy, Nystagmus, Occipital meningocele, Patent ductus arteriosus, Polycystic kidney dysplasia, Postaxial foot polydactyly, Postaxial hand polydactyly, Prominent nasal bridge, Psychomotor retardation, Ptosis, Pulmonic stenosis, Renal corticomedullary cysts, Renal insufficiency, Renal tubular atrophy, Retinal degeneration, Retinal dystrophy, Scoliosis, Seizure, Situs inversus totalis, Stage 5 chronic kidney disease, Strabismus, Tachypnea, Tubulointerstitial fibrosis, Undetectable electroretinogram, Visual impairment, Wide mouth

abnormal hippocampal commissure morphology, abnormal interventricular foramen morphology, abnormal medulla oblongata morphology, abnormal nasal cavity morphology, abnormal olfactory epithelium morphology, abnormal olfactory nerve morphology, abnormal pericardium morphology, abnormal telencephalon morphology, absent cerebellum, behavior/neurological phenotype, decreased Purkinje cell number, decreased body size, decreased brain size, decreased hindbrain size, ectopic Purkinje cell, enlarged fourth ventricle, enlarged lateral ventricles, lethality at weaning, complete penetrance, lethality at weaning, incomplete penetrance, neonatal lethality, incomplete penetrance, no abnormal phenotype detected, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, complete penetrance, reduced cerebellar foliation, small cerebellum, small olfactory bulb, small thalamus