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cortical dysplasia-focal epilepsy syndrome
Summary
- Synonym
-
- CDFE syndrome
- CDFES
- PTHSL1
- Pitt-Hopkins-like syndrome-1
- 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.
- Super Class
- autosomal recessive disease brain disease
External Links
- Disease Ontology
- DOID:0090130
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
