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Cortical dysplasia-focal epilepsy syndrome

Disease definition

A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

ORPHA:163681

Classification level: Disorder
  • Synonym(s):
    • CDFE syndrome
    • CDFES
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q04.8
  • OMIM: 610042
  • UMLS: C1864887
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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