label: Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress
label_lc: choreoathetosis, hypothyroidism, and neonatal respiratory distress
description: An autosomal dominant condition caused by mutation(s) in the NKX2-1 gene, encoding homeobox protein Nkx-2.1. It is characterized by choreoathetosis, congenital hypothyroidism, and pulmonary dysfunction.