Aside from the kidney features, which are commonly classified as NPHP and cystic kidney disease, NPHP1 pathogenic variants cause extrarenal phenotypes, including retinal dystrophy and brain malformations in ∼10% of cases (Srivastava et al., 2017a; Esson et al., 2024). Here, NPHP1 is linked to Retinal dystrophy.