Mullerian Aplasia and Hyperandrogenism

**Semantic type:** Disease or Syndrome

**Definition:** Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.

**Synonyms:** - WNT4 Deficiency - WNT4 Deficiency