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


Disease Ontology 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: CDFES, CDFE syndrome, Pitt-Hopkins-like syndrome-1, PTHSL1

Xenbase Genes : cntnap2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012400 - cortical dysplasia-focal epilepsy syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), brain disease (is_a)