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developmental and epileptic encephalopathy 26
Summary
- Synonym
-
- DEE26
- early infantile epileptic encephalopathy 26
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080461
- Mondo Disease Ontology
- OMIM
- GARD
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 |
