Developmental And Epileptic Encephalopathy 66
Disease ID: disease_node_16217
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618067 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE66, early infantile epileptic encephalopathy 66 |
| Doid Label | developmental and epileptic encephalopathy 66 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16217 |
| Doid Id | DOID_0080446 |
| Label | Developmental And Epileptic Encephalopathy 66 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)