Developmental And Epileptic Encephalopathy 50
Disease ID: disease_node_16270
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| Dbxref | GARD:13621, MIM:616457, ORDO:448010 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | CDG syndrome type Iz, CDG-Iz, Carbohydrate deficient glycoprotein syndrome type Iz, Congenital disorder of glycosylation type 1z, DEE50, early infantile epileptic encephalopathy 50 |
| Doid Label | developmental and epileptic encephalopathy 50 |
| Doid Description | A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16270 |
| Doid Id | DOID_0080419 |
| Label | Developmental And Epileptic Encephalopathy 50 |
- 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)