Developmental And Epileptic Encephalopathy 6B
Disease ID: disease_node_16259
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:619317 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE6B |
| Doid Label | developmental and epileptic encephalopathy 6B |
| Doid Description | A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16259 |
| Doid Id | DOID_0070379 |
| Label | Developmental And Epileptic Encephalopathy 6B |
- 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)