Developmental And Epileptic Encephalopathy 91
Disease ID: disease_node_16194
Connections displayed (default: 10).
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| Dbxref | MIM:617711 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | infantile or early childhood epileptic encephalopathy 1 |
| Doid Label | developmental and epileptic encephalopathy 91 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16194 |
| Doid Id | DOID_0080472 |
| Label | Developmental And Epileptic Encephalopathy 91 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)