Compound heterozygous and homozygous mutations in B4GALT7, the enzyme that adds the first Gal residue to -serine-o-xyl- cause Ehlers-Danlos syndrome (EDS) spondylodysplastic type 1 (Malfait et al., 2017; Malfait et al., 2020) which is characterized by short stature, muscle hypotonia and bowing of limbs. Here, B4GALT7 is linked to Ehlers-Danlos syndrome.