Additional clinical features associated with NKX6‐2 mutations – cervical and/or limb dystonia, congenital abnormalities (congenital heart disease, undescended testes), severe dental and/or gum abnormalities – reflect the developmental role of NKX6‐2 as a member of the homeobox gene family 10. Here, NKX6-2 is linked to congenital heart disease.