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developmental and epileptic encephalopathy 59
Summary
- Synonym
-
- DEE59
- early infantile epileptic encephalopathy 59
- Definition
- A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080291
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75899 | Gamma-aminobutyric acid type B receptor subunit 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000713 | Agitation |
| HP:0000723 | Restrictive behavior |
| HP:0000729 | Autistic behavior |
| HP:0000748 | Inappropriate laughter |
| HP:0000817 | Reduced eye contact |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001257 | Spasticity |
