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GTR Home > Conditions/Phenotypes > Isolated growth hormone deficiency type IB

Summary

IGHD type IB is an autosomal recessive disorder characterized by low but detectable levels of GH, short stature (more than 2 SD below the mean for age and sex), delayed bone age, and a good response to rhGH treatment without antibody formation (summary by Alatzoglou et al., 2014). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: GH, GH-N, GHB5, GHN, IGHD1A, IGHD1B, IGHD2, hGH-N, GH1
    Summary: growth hormone 1

Clinical features

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