As well as SOX9 being responsible for the syndrome Campomelic Dysplasia with associated 46,XY DSD, SOX9 mutations can also cause isolated DSDs including 46,XX testicular DSD (OMIM: 278850, 300833, and 400045), which involves the development of histologically normal testis in 46,XX individuals; and 46,XX ovotesticular DSD (OMIM: 400045) which involves the development of ovotestis in which both ovarian and testicular tissue is present. Here, SOX9 is linked to disorder of sexual differentiation.