Developmental And Epileptic Encephalopathy 64
Disease ID: disease_node_16263
Connections displayed (default: 10).
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| Dbxref | MIM:618004 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE64, early infantile epileptic encephalopathy 64 |
| Doid Label | developmental and epileptic encephalopathy 64 |
| Doid Description | A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16263 |
| Doid Id | DOID_0070375 |
| Label | Developmental And Epileptic Encephalopathy 64 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)