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CNTNAP2-related developmental and epileptic encephalopathy

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • CDFE syndrome
    • CDFES
    • CNTNAP2-related DEE
    • Cortical dysplasia-focal epilepsy syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: Q04.8
  • OMIM: 610042
  • UMLS: C5575702
  • MeSH: -
  • GARD: -
  • MedDRA: -
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