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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28472 | Gamma-aminobutyric acid receptor subunit beta-3 |
- 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 |
