Its many names can be attributed to the diverse spectrum of clinical manifestations, including Bardet-Biedl syndrome (BBS), nephronophthisis, Joubert syndrome, Senior-Loken syndrome, Meckel-Gruber syndrome, and Leber congenital amaurosis, associated with mutations in the Cep290 gene [50-52]. The gene discussed is CEP290; the disease is Bardet-Biedl syndrome.