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

GeneLocusProtein
BTKXq21.33-q22Tyrosine-protein kinase BTK

Laboratory Test Method Prenatal Carrier *
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 

* 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.

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