A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. The disease is MONDO_0024264 (hypothyroidism, congenital, nongoitrous, 2). Also known as: CHNG2, congenital hypothyroidism due to thyroid dysgenesis or hypoplasia, hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia.