Biallelic CEP164 variants have been identified in multiple individuals affected by ciliopathy‐spectrum disease, including Leber congenital amaurosis, Bardet‐Biedl syndrome, and JS with associated features including obesity, bronchiectasis, liver fibrosis, and intellectual disability (Chaki et al., 2012; Shamseldin et al., 2020). Here, CEP164 is linked to Leber congenital amaurosis.