Developmental And Epileptic Encephalopathy 106
Disease ID: disease_node_16246
Connections displayed (default: 10).
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| Dbxref | MIM:620028 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE106, early infantile epileptic encephalopathy 106 |
| Doid Label | developmental and epileptic encephalopathy 106 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16246 |
| Doid Id | DOID_0070392 |
| Label | Developmental And Epileptic Encephalopathy 106 |
- 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)