CEP290 and Meckel syndrome, type 1: For example, for mutations in the CEP290 gene, 90 mutations have been reported exclusively in only one phenotype, while 14 others have segregated with two diseases, and eight have been associated with three or more phenotypes.43 In most cases, these phenotypes are partially overlapping, although few mutations were observed to lead to strongly divergent disorders, such as Leber's Congenital Amaurosis (LCA) and MKS.