|Name||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.
CDFE syndrome [EXACT]
Pitt-Hopkins-like syndrome-1 [EXACT]
is_a brain disease