Finally, B3GALT6 (OMIM * 615291) is linked to the following three diseases: Al-Gazali syndrome (OMIM # 609465), Ehlers–Danlos syndrome, spondylodysplastic type 2 (EDSSPD2, OMIM # 615349), and spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1; OMIM # 271640). Here, B3GALT6 is linked to spondyloepimetaphyseal dysplasia, matrilin-3 type.