Developmental And Epileptic Encephalopathy 46
Disease ID: disease_node_16208
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617162 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE46, early infantile epileptic encephalopathy 46 |
| Doid Label | developmental and epileptic encephalopathy 46 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16208 |
| Doid Id | DOID_0080456 |
| Label | Developmental And Epileptic Encephalopathy 46 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)