A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.
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hypothyroidism, congenital, nongoitrous, 5
MONDO:0009154
isolated thyroid-stimulating hormone deficiency
MONDO:0010139
hypothyroidism due to TSH receptor mutations
MONDO:0010142
congenital nongoitrous hypothyroidism 3
MONDO:0012360
congenital nongoitrous hypothyroidism 6
MONDO:0013757
hypothyroidism, congenital, nongoitrous, 8
MONDO:0026731