Developmental And Epileptic Encephalopathy 18
Disease ID: disease_node_16192
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| Dbxref | GARD:13676, MIM:615476 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE18, early infantile epileptic encephalopathy 18 |
| Doid Label | developmental and epileptic encephalopathy 18 |
| Doid Description | A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16192 |
| Doid Id | DOID_0080413 |
| Label | Developmental And Epileptic Encephalopathy 18 |
- 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)