Developmental And Epileptic Encephalopathy 33
Disease ID: disease_node_16201
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| Dbxref | MIM:616409 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE33, early infantile epileptic encephalopathy 33 |
| Doid Label | developmental and epileptic encephalopathy 33 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16201 |
| Doid Id | DOID_0080463 |
| Label | Developmental And Epileptic Encephalopathy 33 |
- 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)