Developmental And Epileptic Encephalopathy 42
Disease ID: disease_node_16210
Connections displayed (default: 10).
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| Dbxref | MIM:617106 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE42, early infantile epileptic encephalopathy 42 |
| Doid Label | developmental and epileptic encephalopathy 42 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16210 |
| Doid Id | DOID_0080454 |
| Label | Developmental And Epileptic Encephalopathy 42 |
- 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)