Term Name:	cortical dysplasia-focal epilepsy syndrome
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.
Ontology:	Human Disease [DOID:0090130]   ( DOID:0090130 )