Phenotypes associated with the disease senior-loken syndrome 3 (OMIM:606995):
- Undetectable electroretinogram (HP:0000550): Lack of any response to stimulation upon electroretinography. Evidence: IEA. (OMIM:606995)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: IEA. (OMIM:606995)
- Stage 5 chronic kidney disease (HP:0003774): 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. (OMIM:606995)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: IEA. (OMIM:606995)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: IEA. (OMIM:606995)
- Enuresis (HP:0000805): Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. Evidence: IEA. (OMIM:606995)
- 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: IEA. (OMIM:606995)
- Nephronophthisis (HP:0000090): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: IEA. (OMIM:606995)
- Renal corticomedullary cysts (HP:0000108): The presence of multiple cysts at the border between the renal cortex and medulla. Evidence: IEA. (OMIM:606995)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: IEA. (OMIM:606995)
- Congenital blindness (HP:0007875): Blindness with onset at birth. Evidence: IEA. (OMIM:606995)