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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:0000648 | Optic atrophy |
| HP:0001249 | Intellectual disability |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001265 | Hyporeflexia |
| HP:0001263 | Global developmental delay |
| HP:0001257 | Spasticity |
| HP:0001268 | Mental deterioration |
| HP:0001315 | Reduced tendon reflexes |
