Version: 8.0.0
Date: Tue Jan 28 2025
cortical dysplasia-focal epilepsy syndrome
DOID:0090130
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

cortical dysplasia-focal epilepsy syndrome

Definition
A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.
Synonyms
  • CDFE syndrome
  • CDFES
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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