Mutations in CEP164 have been associated with severe ciliopathy phenotypes (Figure 4A), such as nephronophthisis, occipital encephalocele, and liver fibrosis, and milder phenotypes, like nephronophthisis with Leber congenital amaurosis [33,44,45,50,51]. The gene discussed is CEP164; the disease is Leber congenital amaurosis.