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Newly discovered recessive neurodevelopmental disorder may be most prevalent ever

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Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most prevalent ever discovered. The condition is caused by changes in a small noncoding gene called RNU2-2. It is estimated to affect thousands of individuals in the United States and account for about 10% of all recessive NDD cases with a known genetic cause.


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