SYNGAP1-related developmental and epileptic encephalopathy

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Synonyms: SYNGAP1-related DEE

A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures intellectual disability and autism spectrum disorder (ASD).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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SYNGAP1-related developmental and epileptic encephalopathy?

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