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familial febrile seizures 8
Summary
- Synonym
-
- FEB8
- familial febrile convulsions 8
- Definition
- A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.
- Super Class
- familial febrile seizures
External Links
- Disease Ontology
- DOID:0111298
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002384 | Focal impaired awareness seizure |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0010819 | Atonic seizure |
| HP:0001252 | Hypotonia |
| HP:0007010 | Poor fine motor coordination |
| HP:0100694 | Tibial torsion |
| HP:0002197 | Generalized-onset seizure |
| HP:0000739 | Anxiety |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0007359 | Focal-onset seizure |
