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developmental and epileptic encephalopathy 43
Summary
- Synonym
-
- DEE43
- early infantile epileptic encephalopathy 43
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080447
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001268 | Mental deterioration |
| HP:0002376 | Developmental regression |
| HP:0000737 | Irritability |
| HP:0010818 | Generalized tonic seizure |
| HP:0002123 | Generalized myoclonic seizure |
