Mutations affecting trafficking protein particle complex 2 (TRAPPC2 or Sedlin) and dymeclin, thought to have roles in protein transport between ER and Golgi, also cause nonlethal skeletal dysplasias, X-linked spondyloepiphyseal dysplasia tarda and Dyggve-Melchior-Clausen syndrome, respectively [[30], [31], [32]]. Here, DYM is linked to Dyggve-Melchior-Clausen disease.