WDPCP and Bardet-Biedl syndrome: In humans, several pathogenic sequence variants in WDPCP have been reported in ciliopathy patients, including Meckel-Gruber syndrome, Bardet-Biedl syndrome (BBS) and orofaciodigital syndromes (Kim et al., 2010; Saari et al., 2015; Shamseldin et al., 2020; Toriyama et al., 2016).