Search Ontology:
Human Disease
cortical dysplasia-focal epilepsy syndrome
- Term ID
- DOID:0090130
- Synonyms
-
- CDFE syndrome
- CDFES
- Pitt-Hopkins-like syndrome-1
- PTHSL1
- 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. (2)
- References
-
- ICD10CM:Q04.8
- MESH:C567657
- MIM:610042
- ORDO:163681
- Ontology
- Human Disease ( DOID:0090130 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models