Human genes for isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IA [DOID:0060873]
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.
Synonyms: isolated growth hormone deficiency type IA, DOID:0060873, isolated growth hormone deficiency type IAs, autosomal recessive isolated growth hormone deficiency, IGHD IA ...