Fragile X syndrome occurs in individuals with a complete mutation of the FMR1 gene or another loss-of-function variant and it is almost always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral problems (autism spectrum disorder is present in 50%-70%). Affected males may have characteristic craniofacial features and medical problems including hypotonia, gastroesophageal reflux, strabismus, seizures, sleep disorders, joint laxity, flat feet, scoliosis, and recurrent otitis media. Adults may have mitral valve prolapse or aortic root dilatation.
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