Disorders

Isolated Growth Hormone Deficiency, Type III

Synonym(s): Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked, Fleisher Syndrome, Growth Hormone Deficiency with Hypogammaglobulinemia, Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked, IGHD 3, IGHD III

OMIM

Gene	Locus	Protein
BTK	Xq21.33-q22	Tyrosine-protein kinase BTK

Laboratory	Test Method	Prenatal	Carrier *
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.