Developmental And Epileptic Encephalopathy 12
Disease ID: disease_node_16205
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| Dbxref | MIM:613722 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE12, early infantile epileptic encephalopathy 12 |
| Doid Label | developmental and epileptic encephalopathy 12 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16205 |
| Doid Id | DOID_0080459 |
| Label | Developmental And Epileptic Encephalopathy 12 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)