Heterozygous variants in the PAX2 gene were found in the majority of clinical diagnostic categories: CAKUT (three cases with dysplastic and/or hypoplastic kidneys), glomerulopathies (one case with unspecified glomerulopathy and one case with suspected Alport syndrome, accompanied by a COL4A3 variant), and cystic kidney diseases (one case with suspected nephronophthisis-related ciliopathy and one case with unspecified polycystic kidney disease) [14]. Here, COL4A3 is linked to cystic kidney disease.