Developmental And Epileptic Encephalopathy 79
Disease ID: disease_node_16174
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| Dbxref | MIM:618559 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE79, early infantile epileptic encephalopathy 79 |
| Doid Label | developmental and epileptic encephalopathy 79 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16174 |
| Doid Id | DOID_0112215 |
| Label | Developmental And Epileptic Encephalopathy 79 |
- 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)