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Human Disease

cortical dysplasia-focal epilepsy syndrome

Term ID
DOID:0090130
Synonyms
  • CDFE syndrome
  • CDFES
  • Pitt-Hopkins-like syndrome-1
  • PTHSL1
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. (2)
References
Ontology
Human Disease   ( DOID:0090130 )
Relationships
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Genes Involved
Zebrafish Models