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GTR Home > Conditions/Phenotypes > X-linked agammaglobulinemia with growth hormone deficiency


IGHD3 is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, delayed bone age, and good response to treatment with growth hormone (summary by Conley et al., 1991). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. [from OMIM]

Available tests

43 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: AGMX1, AT, ATK, BPK, IGHD3, IMD1, PSCTK1, XLA, BTK
    Summary: Bruton tyrosine kinase

Clinical features


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