Developmental And Epileptic Encephalopathy 89
Disease ID: disease_node_16166
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| Dbxref | MIM:619124 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE89, early infantile epileptic encephalopathy 89 |
| Doid Label | developmental and epileptic encephalopathy 89 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16166 |
| Doid Id | DOID_0112223 |
| Label | Developmental And Epileptic Encephalopathy 89 |
- 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)