Otofaciocervical Syndrome 2, with T-Cell Deficiency (OTFCS2)

Otofaciocervical Syndrome 2, with T-Cell Deficiency, also known as otofaciocervical syndrome 2, is related to orofacial cleft 2 and orofacial cleft. An important gene associated with Otofaciocervical Syndrome 2, with T-Cell Deficiency is PAX1 (Paired Box 1). Affiliated tissues include thymus and testis, and related phenotypes are dental malocclusion and blue sclerae.