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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:0001288 | Gait disturbance |
| HP:0001319 | Neonatal hypotonia |
| HP:0001332 | Dystonia |
| HP:0001337 | Tremor |
| HP:0001510 | Growth delay |
| HP:0001773 | Short foot |
| HP:0002066 | Gait ataxia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002186 | Apraxia |
| HP:0002194 | Delayed gross motor development |
