Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IA
Definition
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 congenital IGHD type IA, congenital isolated GH deficiency type IA, congenital isolated growth hormone deficiency type IA, growth hormone deficiency, isolated, type IA, Illig-type growth hormone deficiency, isolated growth hormone deficiency type IA, primordial dwarfism, sexual ateleiotic dwarfism — per MONDO