Developmental And Epileptic Encephalopathy 44
Disease ID: disease_node_16266
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| Dbxref | MIM:617132 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE44, early infantile epileptic encephalopathy 44 |
| Doid Label | developmental and epileptic encephalopathy 44 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16266 |
| Doid Id | DOID_0080424 |
| Label | Developmental And Epileptic Encephalopathy 44 |
- 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)