Our observations confirm the previous findings of Giunta et al. (2008), Fukada et al. (2008), and Dusanic et al. (2018) that SLC39A13 deficiency is associated with a clinical phenotype characterized by post-natal short stature, connective tissue weakness affecting mainly the skin and peripheral joints, a characteristic facial appearance, and a moderate skeletal dysplasia. Here, SLC39A13 is linked to skeletal dysplasia.