Mutations in CEP290 cause Joubert syndrome (JBTS5 [MIM 610188]), Meckel syndrome (MKS4 [MIM 611134]), Senior Loken syndrome (SLSN6 [MIM 610189]), Leber congenital amaurosis (LCA10 [MIM 611755]) [30], [31], [32], [33], [34], [35], and Bardet Biedel syndrome (BBS14 [MIM 209900]) [36], while mutations in IQCB1 are the most frequent cause of Senior Loken syndrome (SLSN5 [MIM 609254]) [37], a syndromic disease with both nephronophthisis and retinitis pigmentosa. Here, CEP290 is linked to Meckel syndrome.