Developmental And Epileptic Encephalopathy 81
Disease ID: disease_node_16172
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| Dbxref | MIM:618663 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE81, early infantile epileptic encephalopathy 81 |
| Doid Label | developmental and epileptic encephalopathy 81 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16172 |
| Doid Id | DOID_0112217 |
| Label | Developmental And Epileptic Encephalopathy 81 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)