isolated growth hormone deficiency type III (DOID:0060875)
Alliance: disease page
Synonyms: congenital IGHD type III; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; Fleisher syndrome; growth hormone deficiency with hypogammaglobulinemia; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked hypogammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency
Alt IDs: OMIM:307200, ICD10CM:E23.0, ORDO:231692
Definition: An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.