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Researchers identify instances of SYNGAP1-related disorders caused by inherited genetic variants

Researchers identify instances of SYNGAP1-related disorders caused by inherited genetic variants

Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1-related disorders—a group of disorders characterized by developmental delay and often associated with epilepsy—can be inherited from a parent, which could help influence family planning, genetic variant interpretation, and other aspects of clinical care.

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