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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, MESH:C567657, 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 (2)
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)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory