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developmental and epileptic encephalopathy 92
Summary
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080471
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002020 | Gastroesophageal reflux |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002317 | Unsteady gait |
| HP:0001336 | Myoclonus |
| HP:0001251 | Ataxia |
| HP:0001558 | Decreased fetal movement |
| HP:0001268 | Mental deterioration |
| HP:0002133 | Status epilepticus |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002355 | Difficulty walking |
