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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14647 | Chromodomain-helicase-DNA-binding protein 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000741 | Apathy |
| HP:0002321 | Vertigo |
| HP:0000708 | Atypical behavior |
| HP:0001336 | Myoclonus |
| HP:0007270 | Atypical absence seizure |
| HP:0000718 | Aggressive behavior |
| HP:0011195 | EEG with focal sharp slow waves |
| HP:0000752 | Hyperactivity |
| HP:0002353 | EEG abnormality |
| HP:0012758 | Neurodevelopmental delay |
