1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080419 | developmental and epileptic encephalopathy 50 | A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. |
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. |
