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Summary Literature (0)
DOID:0090130 - cortical dysplasia-focal epilepsy syndrome


Disease Ontology Definition:A brain disease characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in homozygous or compound heterozygous mutation in the CNTNAP2 gene on chromosome 7q35-q36.

Synonyms: CDFE syndrome, CDFES

In OMIM:
OMIM:610042 - PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1

In Mondo Disease Ontology:
MONDO:0012400 - cortical dysplasia-focal epilepsy syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : cntnap2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): brain disease (is_a)