Developmental And Epileptic Encephalopathy 52
Disease ID: disease_node_16209
Connections displayed (default: 10).
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| Dbxref | MIM:617350 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE52, early infantile epileptic encephalopathy 52 |
| Doid Label | developmental and epileptic encephalopathy 52 |
| Doid Description | A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16209 |
| Doid Id | DOID_0080455 |
| Label | Developmental And Epileptic Encephalopathy 52 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)