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MIRAGE
developmental and epileptic encephalopathy 56
Summary
- Synonym
-
- DEE56
- early infantile epileptic encephalopathy 56
- Definition
- A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080282
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P61981 | 14-3-3 protein gamma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001298 | Encephalopathy |
| HP:0001290 | Generalized hypotonia |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001508 | Failure to thrive |
| HP:0001558 | Decreased fetal movement |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002133 | Status epilepticus |
| HP:0002063 | Rigidity |
