Developmental And Epileptic Encephalopathy 68
Disease ID: disease_node_16184
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618201 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE68, early infantile epileptic encephalopathy 68 |
| Doid Label | developmental and epileptic encephalopathy 68 |
| Doid Description | A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16184 |
| Doid Id | DOID_0112204 |
| Label | Developmental And Epileptic Encephalopathy 68 |
- 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)