OBO ID: DOID:0090130 |
Term Name: | cortical dysplasia-focal epilepsy syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0090130 ) |
OTHER cortical dysplasia-focal epilepsy syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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