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Phelan McDermid Syndrome Foundation Overview
To promote and conduct educational activities regarding the genetic disorder known as 22q13 Deletion Syndrome, including the reason(s) the disorder occurs and its physical effects upon the persons having the disorder. To conduct periodic conferences and publish literature intended to educate the families of persons affected worldwide by the disorder, to provide guidance in the care of the affected family members as research progresses
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Phelan McDermid Syndrome (aka 22Q13) is a genetic disorder encompassing the deletion of a string of genes on the 22nd chromosome which includes the SHANK3 Gene. SHANK3 deletions and mutations have recently been identified as a cause for AUTISM. Although the number of identified 22Q13 children number...
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