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References OMIM Gene GeneReviews HGMD HGNC
last update : 12/06/2006
Symbol IGHD3
Location Xq22.1
Name agammaglobulinemia and isolated growth hormone deficiency
Other name(s)
  • isolated growth hormone deficiency III
  • Fleisher syndrome
  • Corresponding gene BTK
    Other symbol(s) IGHD3
    Main clinical features
  • short stature, retarded bone age and delayed onset of puberty and immunodeficiency characterized by absent specific antibody production
  • Genetic determination sex linked
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name Bruton agammaglobulinemia tyrosine kinase