Mondo Description A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.

Uniprot Description A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.