CNTNAP2-related developmental and epileptic encephalopathy

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Synonyms: CDFE syndrome | CDFES | CNTNAP2-related DEE | Cortical dysplasia-focal epilepsy syndrome

A rare genetic syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.

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 Data version July 2024

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CNTNAP2-related developmental and epileptic encephalopathy?

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