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GTR Home > Conditions/Phenotypes > Short stature due to growth hormone qualitative anomaly

Short stature due to growth hormone qualitative anomaly

Synonyms
BIODEFECTIVE GROWTH HORMONE; Kowarski syndrome; PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE AND LOW SOMATOMEDIN
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 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

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Imported from Human Phenotype Ontology (HPO)

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