Developmental And Epileptic Encephalopathy 53
Disease ID: disease_node_16200
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| Dbxref | MIM:617389 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE53, early infantile epileptic encephalopathy 53 |
| Doid Label | developmental and epileptic encephalopathy 53 |
| Doid Description | A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16200 |
| Doid Id | DOID_0080464 |
| Label | Developmental And Epileptic Encephalopathy 53 |
- 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)