Developmental And Epileptic Encephalopathy 57
Disease ID: disease_node_16239
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| Dbxref | MIM:617771 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE57, early infantile epileptic encephalopathy 57 |
| Doid Label | developmental and epileptic encephalopathy 57 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16239 |
| Doid Id | DOID_0080284 |
| Label | Developmental And Epileptic Encephalopathy 57 |
- 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)