Developmental And Epileptic Encephalopathy 45
Disease ID: disease_node_16235
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| Dbxref | MIM:617153 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE45, early infantile epileptic encephalopathy 45 |
| Doid Label | developmental and epileptic encephalopathy 45 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16235 |
| Doid Id | DOID_0080428 |
| Label | Developmental And Epileptic Encephalopathy 45 |
- 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)