The U.S. National Library of Medicine (NLM) does not provide specific medical advice.  We cannot respond to questions about individual genetic diseases, provide second opinions or make specific recommendations regarding therapy. You should consult with a genetics professional.
NLM and the U.S. National Institutes of Health (NIH) offer consumer-oriented services that provide information on genetic disease and guidelines for locating genetics professionals:
  • MedlinePlus Genetics provides consumer-friendly information about the effects of genetic variation on human health.
  • The Genetic and Rare Diseases (GARD) Information Center is funded by NIH and provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
  • The NIH Genetic Testing Registry® (GTR) database home page also provides listings of consumer resources. Note two boxes on the right side of the screen, titled Resources Included in GTR (use the "See a list of all related resources" link) and Locate a Genetics Professional.  
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