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Empowering Different
Raising awareness of chromosome variations. Inspired by Riley, a spunky little girl with an infectious smile, born with a deletion on her 22nd chromosome (Phelan-McDermid Syndrome).
People who have P-MS often show symptoms in very early childhood, sometimes at birth and within the first six months of life. They often have hypotonia (low or weak muscle tone) and developmental delay (not achieving developmental milestones such as rolling over, sitting up, walking, or talking on time). Less frequently, some children present with heart defects (such as a hole in the heart) or kidney defects, although these are usually not life-threatening. These are often the first noticeable symptoms and are what prompt families to start down the diagnostic journey.



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