ARL3 and Joubert syndrome: Previously, two different ARL3 Arg149 missense variants (c.445C>T, p.Arg149Cys; c.446G>A, p.Arg149His) were reported to cause recessive Joubert syndrome, characterized by hypoplasia of the cerebellar vermis, developmental delay, renal anomalies, and RCD in two families (Alkanderi et al., 2018).