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De novo: A gene change that is present for the first time in a family member due to a genetic mutation in one of the reproductive cells of a parent or in the fertilized egg.

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The Developmental Synaptopathies Consortium (DSC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). DSC is funded under grant number U54NS092090 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Mental Health (NIMH). This website is hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and NINDS under grant number TR002818. The content of this website is solely the responsibility of the DSC administrative coordinating center at Boston Children’s Hospital and does not necessarily represent the official views of the NIH.

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