isolated growth hormone deficiency type IB (DOID:0060874)
Alliance: disease page
Synonyms: congenital IGHD type IB; congenital isolated GH deficiency type IB; congenital isolated growth hormone deficiency type IB; dwarfism of Sindh; IGHD IB
Alt IDs: OMIM:612781, OMIM:618157, ICD10CM:E23.0, ORDO:231671
Definition: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.