TBX6 has been implicated as a candidate gene for another associated clinical manifestation of microdeletions at 16p11.2 which leads to a complete absence, or underdevelopment, of the female reproductive system (with Mayer-Rokitansky-Küster-Hauser syndrome [MRKH; MIM: 277000]). Here, TBX6 is linked to Mayer-Rokitansky-Kuster-Hauser syndrome type 1.