1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:331 | central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
