" /> Isolated growth hormone deficiency, type III, with agammaglobulinemia - CISMeF





Preferred Label : Isolated growth hormone deficiency, type III, with agammaglobulinemia;

Symbol : IGHD3;

CISMeF acronym : IGHD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fleisher syndrome; Ighd III; Hypogammaglobulinemia and isolated growth hormone deficiency, X-linked; Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Growth hormone deficiency with hypogammaglobulinemia, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Bruton tyrosine kinase gene (BTK, 300300.0004);

Laboratory abnormalities : Panhypogammaglobulinemia;

Prefixed ID : #307200;

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25/07/2025


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