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growth hormone deficiency isolated type 2; dwarfism of Sindh (IGHD1B)
Genetics:
- autosomal dominant
- associated with defects in GH1
Clinical manifestations:
- short stature
- clinical severity is variable.
Laboratory:
- serum growth hormone may be low
Management:
- patients usually respond well to exogenous GH
General
hyposomatotropism (growth hormone deficiency)
genetic disease of the endocrine system
Database Correlations
OMIM 173100
References
OMIM :accession 173100