| Metadata | |
|---|---|
| ID | DOID:0090130 |
| Name | cortical dysplasia-focal epilepsy syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/27439707, https://www.omim.org/entry/610042 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CDFE syndrome [EXACT] CDFES [EXACT] Pitt-Hopkins-like syndrome-1 [EXACT] PTHSL1 [EXACT] |
| Parent Relationships |
is_a brain disease |