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GENATLAS PHENOTYPE

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
	endocrinology
Type	disease

Gene product

Name	Bruton agammaglobulinemia tyrosine kinase

Remark(s)