Version: 8.0.0
Date: Tue Jan 28 2025
isolated growth hormone deficiency type IA
DOID:0060873
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • autosomal recessive isolated growth hormone deficiency
  • IGHD IA
Cross References
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