Term Name: congenital nongoitrous hypothyroidism 9
Synonyms: CHNG9
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.
Ontology: Human Disease [DOID:0111835]   ( DOID:0111835 )

Relationships
is a type of: congenital hypothyroidism X-linked recessive disease