" /> Kleefstra Syndrome - CISMeF





Preferred Label : Kleefstra Syndrome;

NCIt synonyms : Chromosome 9q34.3 Deletion Syndrome;

NCIt definition : A condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features.;

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31/07/2025


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