While EvC is typically caused by mutations disrupting assembly or stability of the EVC-EVC2 complex, thus preventing it from accumulating in cilia, WAD is instead caused by specific deletions affecting up to 43 amino acid (aa) residues at the end of EVC2’s C-terminal cytosolic tail (D'Asdia et al., 2013; Ruiz-Perez and Goodship, 2009). This evidence concerns the gene EVC2 and acrofacial dysostosis, Weyers type.