Developmental And Epileptic Encephalopathy 41
Disease ID: disease_node_16221
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| Dbxref | MIM:617105 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE41, early infantile epileptic encephalopathy 41 |
| Doid Label | developmental and epileptic encephalopathy 41 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16221 |
| Doid Id | DOID_0080442 |
| Label | Developmental And Epileptic Encephalopathy 41 |
- 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)