| Disease ID | Source | Name | Description |
| 614845 | OMIM | Nephronophthisis 15 (NPHP15) | An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. The disease is caused by variants affecting the gene represented in this entry. |