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

Isolated growth hormone deficiency type IB

Synonyms
IGHD 1B; IGHD IB; Isolated growth hormone deficiency type 1B
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Isolated growth hormone deficiency type IB (IGH1B) 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

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics 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

Help
Imported from Human Phenotype Ontology (HPO)

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