Developmental And Epileptic Encephalopathy 70
Disease ID: disease_node_16182
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| Dbxref | MIM:618298 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE70, early infantile epileptic encephalopathy 70 |
| Doid Label | developmental and epileptic encephalopathy 70 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16182 |
| Doid Id | DOID_0112206 |
| Label | Developmental And Epileptic Encephalopathy 70 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)