Notably, some WD40 repeat proteins were reported to be associated with rare disorders, for example, WDR45 with psychomotor development delay (Saitsu et al., 2013), WDR35 with cranioectodermal dysplasia (Gilissen et al., 2010), and WDR56 with short‐rib thoracic dysplasia (Cavalcanti et al., 2011), etc. (Li & Roberts, 2001). Here, WDR45 is linked to cranioectodermal dysplasia.