,19, 20, 21, 22, 23,29,30 As a result, the frequency of urorenogenital phenotypes in patients with diagnostic PHIP variants and a clinical CHUJANS-diagnosis was found to range between 5% and 35% (n = 37/115) (Figure 2j and k), however, in patients with genetically unexplained CAKUT this was only the reason in 0.12% (n = 1/848). Here, PHIP is linked to congenital anomaly of kidney and urinary tract.