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developmental and epileptic encephalopathy 94
Summary
- Definition
- A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26.
- Super Class
- developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0081325
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002363 | Abnormal brainstem morphology |
| HP:0001249 | Intellectual disability |
| HP:0012075 | Personality disorder |
| HP:0000729 | Autistic behavior |
| HP:0007359 | Focal-onset seizure |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0000709 | Psychosis |
| HP:0002527 | Falls |
| HP:0001298 | Encephalopathy |
| HP:0010819 | Atonic seizure |
