Developmental And Epileptic Encephalopathy 84
Disease ID: disease_node_16170
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| Dbxref | MIM:618792 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE84, Jamuar syndrome, early infantile epileptic encephalopathy 84 |
| Doid Label | developmental and epileptic encephalopathy 84 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16170 |
| Doid Id | DOID_0112219 |
| Label | Developmental And Epileptic Encephalopathy 84 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)