" /> Angelman Syndrome - CISMeF





Preferred Label : Angelman Syndrome;

NCIt definition : A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.;

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31/07/2025


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