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Fragile X Syndrome is a genetic disease due to a CGG trinucleotide expansion, called as full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3.
Physical features associated with Fragile X are often not very obvious in young children, Richardson says, adding: "Physical features include a long face, large or prominent ears, and flat feet ...
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For 22 years, Jason Mazzola's life was defined by Fragile X, a genetic condition that often causes autism and intellectual disability. Jason, who is 24 now, needed constant supervision.