Developmental And Epileptic Encephalopathy 8
Disease ID: disease_node_16193
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| Dbxref | MIM:300607 |
|---|---|
| Subclassof | DOID_0080012, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE8, EIEE8, early infantile epileptic encephalopathy 8 |
| Doid Label | developmental and epileptic encephalopathy 8 |
| Doid Description | A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_16193 |
| Doid Id | DOID_0080215 |
| Label | Developmental And Epileptic Encephalopathy 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)