The FZD6 p.Arg511His (c.1532G>A) was found in an Italian patient with Caudal Regression syndrome, including vertebral and costal anomalies, meningocele, hydromyelia, tethered cord, left kidney agenesis (Figs. 1 and 2; Table 2); it is predicted to localize to the cytoplasmatic terminal domain of the protein (Fig. 1B). Here, FZD6 is linked to caudal regression sequence.