In brief, the present study identified two novel B3GALT6 pathogenic variants in a multiplex family: 1) in the recessive status, mutant B3GALT6 causing EDS; and 2) in the dominant status, the elongation-mutant β3Galt6 causing moderate phenotypes (although not reaching the level of a typical EDS). Here, B3GALT6 is linked to Ehlers-Danlos syndrome.