Multiple mutations and deletions may manifest as the brain-lung-thyroid syndrome (BLTS).
Chromosome: 14q13.3
Gene affected: NKX2-1 (NK2 homeobox 1)
Key features:
(1) choreoathetotic movements (associated with defects in the basal ganglia)
(2) interstitial lung disease with neonatal respiratory distress
(3) hypothyroidism
The choreoathetosis may be associated with frequent falls and the patient may be viewed as "clumsy".
Additional findings may be present depending on the extent of any deletion.
