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. [ NCI ]
Synonyms: Chromosome 9q34.3 Deletion Syndrome Kleefstra Syndrome
This is just here as a test because I lose it
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Subsets
NCIT_C165258