The impaired function of the SLC26A2 product would be expected to lead to undersulfation of proteoglycans in the cartilage matrix and thereby cause a spectrum of SDs, including achondrogenesis IB (ACG-IB,MIM #600972), atelosteogenesis II (MIM #256050), De la Chapelle dysplasia (MIM #256050), diastrophic dysplasia (DTD, MIM # 222600) and epiphyseal dysplasia, multiple, i.e., 4 (MIM # 226900). Here, ATP8A2 is linked to Epiphyseal dysplasia.