congenital nongoitrous hypothyroidism 4 (DOID:0070123)
Alliance: disease page
Synonyms: CHNG4; isolated thyrotropin deficiency
Alt IDs: OMIM:275100, ICD10CM:E03.1
Definition: A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.