BPNT2 and chondrodysplasia: Homozygous mutations in IMPAD1 cause chondrodysplasia with joint dislocations (Table 5; Vissers et al., 2011; Nizon et al., 2012a), which is characterized by a short stature, brachydactyly, joint dislocations, micrognathia, cleft palate, and facial dysmorphism (Vissers et al., 2011; Nizon et al., 2012a).