congenital nongoitrous hypothyroidism 9 (DOID:0111835)
Alliance: disease page
Synonyms: CHNG9
Alt IDs: OMIM:301035
Definition: A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3.