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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:0002539 | Cortical dysplasia |
| HP:0100543 | Cognitive impairment |
| HP:0002376 | Developmental regression |
| HP:0002067 | Bradykinesia |
| HP:0008770 | Obsessive-compulsive trait |
| HP:0001251 | Ataxia |
| HP:0004684 | Talipes valgus |
| HP:0002133 | Status epilepticus |
