Six (60%) had confirmed genetic disease out of which 4 had a pathogenic variant in SDCCAG8, DYNC2H1, NPHP 1, and CEP164 and 2 had likely pathogenic variant in PKHD1. Two had VUS in PKD1 and PKD2. In one child (case 1) the clinical diagnosis was reclassified from Bardet Biedl Syndrome to nephronophthisis 15. This evidence concerns the gene PKHD1 and Bardet-Biedl syndrome.