Developmental And Epileptic Encephalopathy 65
Disease ID: disease_node_16233
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| Dbxref | MIM:618008 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE65, early infantile epileptic encephalopathy 65 |
| Doid Label | developmental and epileptic encephalopathy 65 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16233 |
| Doid Id | DOID_0080430 |
| Label | Developmental And Epileptic Encephalopathy 65 |
- 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)