Developmental And Epileptic Encephalopathy 30
Disease ID: disease_node_16199
Connections displayed (default: 10).
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| Dbxref | MIM:616341 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE30, early infantile epileptic encephalopathy 30 |
| Doid Label | developmental and epileptic encephalopathy 30 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16199 |
| Doid Id | DOID_0080465 |
| Label | Developmental And Epileptic Encephalopathy 30 |
- 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)