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What Is Phelan-McDermid Syndrome?

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Sarah K. Lee

Definition:

Phelan-McDermid Syndrome, also known as 22q13 Deletion Syndrome, occurs when genes are missing from the tip of the 22nd chromosome. Children with Phelan-McDermid may have very low muscle tone, delays in motor skills and speech, distinctive facial features, and minor physical abnormalities.

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Also Known As: 22q13 Deletion Syndrome

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