Developmental And Epileptic Encephalopathy 74
Disease ID: disease_node_16178
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618396 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE74, early infantile epileptic encephalopathy 74 |
| Doid Label | developmental and epileptic encephalopathy 74 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16178 |
| Doid Id | DOID_0112210 |
| Label | Developmental And Epileptic Encephalopathy 74 |
- 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)