Isolated growth hormone deficiency type IA

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.

Also known as: Illig-type growth hormone deficiency, congenital IGHD type IA, congenital isolated GH deficiency type IA, congenital isolated growth hormone deficiency type IA, growth hormone deficiency, isolated, type IA, isolated growth hormone deficiency type IA, primordial dwarfism, sexual ateleiotic dwarfism

1 clinical trial for this condition and its sub-types, 0 tagged with Isolated growth hormone deficiency type IA itself.