The two missense mutations Q11P (homozygous) and R93W (compound heterozygous with a Q525X truncation mutation) in CEP164 are associated with nephronophthisis, while a homozygous CEP164 R93W mutation also has been identified in a patient with BBS (Bardet-Biedl syndrome)-like syndrome (Chaki et al., 2012; Maria et al., 2016). This evidence concerns the gene CEP164 and nephronophthisis.