Developmental And Epileptic Encephalopathy 2
Disease ID: disease_node_16198
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| Dbxref | MIM:300672 |
|---|---|
| Subclassof | DOID_0080009, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE2, EIEE2, X-linked infantile spasm syndrome 2, early infantile epileptic encephalopathy 2 |
| Doid Label | developmental and epileptic encephalopathy 2 |
| Doid Description | A developmental and epileptic encephalopathy characterized by X-linked domit inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_16198 |
| Doid Id | DOID_0080467 |
| Label | Developmental And Epileptic Encephalopathy 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease)