|OBO ID: DOID:0090130|
|Term Name:||cortical dysplasia-focal epilepsy syndrome||Search 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. (2)|
|Ontology:||Human Disease (DOID:0090130)|
|is a type of:||
OTHER cortical dysplasia-focal epilepsy syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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