Developmental And Epileptic Encephalopathy 62
Disease ID: disease_node_16269
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| Dbxref | MIM:617938 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE62, early infantile epileptic encephalopathy 62 |
| Doid Label | developmental and epileptic encephalopathy 62 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16269 |
| Doid Id | DOID_0080420 |
| Label | Developmental And Epileptic Encephalopathy 62 |
- 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)