In addition, some skeletal abnormalities are also unique for some types of CDG, including Schneckenbecken dysplasia in SLC35D1-CDG, brachytelephalangy in PIGV-CDG and PIGO-CDG, pseudodiastrophic dysplasia in ALG12-CDG, Gillessen-Kaesbach and Nishimura skeletal dysplasia in ALG9-CDG, and Desbuquois dysplasia in PGM3-CDG (48, 70–72). The gene discussed is ALG9; the disease is skeletal dysplasia.