- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: TAS. (OMIM:614844)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614844)
- Nephronophthisis (HP:0000090): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: TAS. (OMIM:614844)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614844)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:614844)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: TAS. (OMIM:614844)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:614844)
These phenotypes are associated with the disease nephronophthisis 14 (OMIM:614844).