- Stage 5 chronic kidney disease (HP:0003774, a Human Phenotype Ontology term): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: IEA. Frequency: 21/21. Onset: Young adult onset (HP:0011462, a Human Phenotype Ontology term). (OMIM:606996)
- Rotary nystagmus (HP:0001583, a Human Phenotype Ontology term): A form of nystagmus in which the eyeball makes rotary motions around the axis. Evidence: IEA. (OMIM:606996)
- Polydipsia (HP:0001959, a Human Phenotype Ontology term): Excessive thirst manifested by excessive fluid intake. Evidence: IEA. (OMIM:606996)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:606996)
- Severely reduced visual acuity (HP:0001141, a Human Phenotype Ontology term): Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. Evidence: IEA. (OMIM:606996)
- Amblyopia (HP:0000646, a Human Phenotype Ontology term): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: IEA. (OMIM:606996)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: PCS. (PMID:12205563)
- Nephronophthisis (HP:0000090, a Human Phenotype Ontology term): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: IEA. (OMIM:606996)
- Polyuria (HP:0000103, a Human Phenotype Ontology term): An increased rate of urine production. Evidence: IEA. (OMIM:606996)
- Rod-cone dystrophy (HP:0000510, a Human Phenotype Ontology term): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. Frequency: 7/21. (PMID:12205563)
These phenotypes are associated with the disease Senior-Loken syndrome 4 (OMIM:606996, an entry in Online Mendelian Inheritance in Man).