cortical dysplasia-focal epilepsy syndrome

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cntnap2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012400 - cortical dysplasia-focal epilepsy syndrome

MONDO:0012400 - cortical dysplasia-focal epilepsy syndrome

Other Model Organisms: AGR, 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)