Developmental And Epileptic Encephalopathy 85
Disease ID: disease_node_16258
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| Dbxref | MIM:301044 |
|---|---|
| Subclassof | DOID_0080009, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE85, early infantile epileptic encephalopathy 85 |
| Doid Label | developmental and epileptic encephalopathy 85 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_16258 |
| Doid Id | DOID_0070380 |
| Label | Developmental And Epileptic Encephalopathy 85 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)