Chaki et al. (2011) reported that 100% of 440 patients with NPHP-related ciliopathies carried biallelic pathogenic variants in NPHP genes. We therefore analyzed the genetic test results from the patients who met at least one of the four criteria for NPHP used by Chaki et al. (2011). Hence, we were able to clinically diagnose 52 patients as having NPHP and found that 26 patients (50%) had pathogenic or likely pathogenic variants in the causative genes. Of these patients, 17 had NPHP, whereas we identified mutations in PAX2, HNF1B, ACE, and UMOD genes in the remaining patients (Figure 4). This evidence concerns the gene UMOD and ciliopathy.