October 22nd is Phelan-McDermid Syndrome
October 22nd is Phelan-McDermid Syndrome Day. This day aims to raise global awareness of Phelan-McDermid Syndrome (also known as 22q13 deletion), a rare genetic condition caused by the deletion of a segment of chromosome 22 or by mutations in the SHANK3 gene. This syndrome affects neurological development and can result in a range of symptoms, such as intellectual deficits, developmental delays, and autism spectrum disorders. The creation of the International Day is a way to increase public awareness of the challenges faced by people with the syndrome and their families. It also seeks to encourage scientific research for better treatments and promote the social inclusion of those with the syndrome.
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