Several studies have shown that loss-of-function mutations in CEP78 are causative of ciliopathy characterized by CRDHL (Nikopoulos et al., 2016; Ascari et al., 2020; Namburi et al., 2016; Fu et al., 2017), and that cells lacking CEP78 display reduced ciliation frequency (Azimzadeh et al., 2012) or abnormally long cilia (Nikopoulos et al., 2016; Ascari et al., 2020). This evidence concerns the gene CEP78 and ciliopathy.