Disorders


 

Donohue Syndrome


Synonym(s): Insulin Receptor Defect, Leprechaunism

 

OMIM

GeneLocusProtein
INSR19p13.3-p13.2Insulin receptor

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain  
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  

* 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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