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generalized epilepsy with febrile seizures plus 10
Summary
- Synonym
-
- GEFS+10
- GEFSP10
- generalised epilepsy with febrile seizures plus 10
- generalised epilepsy with febrile seizures plus type 10
- generalized epilepsy with febrile seizures plus type 10
- Definition
- A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12.
- Super Class
- generalized epilepsy with febrile seizures plus
External Links
- Disease Ontology
- DOID:0111296
- 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 |
