About   Help   FAQ
Disease Ontology Browser
cortical dysplasia-focal epilepsy syndrome (DOID:0090130)
Alliance: disease page
Synonyms: CDFE syndrome; CDFES; Pitt-Hopkins-like syndrome-1; PTHSL1
Alt IDs: OMIM:610042, ICD10CM:Q04.8, ORDO:163681
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/11/2020
MGI 6.14
The Jackson Laboratory