Table 5

Transcription factor gene mutations resulting in thyroid dysgenesis and associated clinical findings

Mutated Gene

Associated clinical findings

Thyroid transcription factor 2 (TTF2)

thyroid dysgenesis, choanal atresia, cleft palate and spiky hair


congenital hypothyroidism, respiratory distress ataxia and benign chorea


Congenital hypothyroidism and cardiac malformations


Thyroid dysgenesis, kidney and ureteral malformations

Rastogi and LaFranchi Orphanet Journal of Rare Diseases 2010 5:17   doi:10.1186/1750-1172-5-17

Open Data