Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Brain-Lung-Thyroid Syndrome - CAHTP