Autosomal-recessive variants in CEP290 (NPHP6) are implicated in an extensive range of syndromic clinical ciliopathies, including LCA, SLS, JBTS, BBS, and MKS (Figure 3) and also isolated nephronophthisis [45,46,48,108,109,110]. The gene discussed is MKKS; the disease is Bardet-Biedl syndrome.