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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:0002059 | Cerebral atrophy |
| HP:0002355 | Difficulty walking |
| HP:0002317 | Unsteady gait |
| HP:0002376 | Developmental regression |
| HP:0002521 | Hypsarrhythmia |
| HP:0002421 | Poor head control |
| HP:0002509 | Limb hypertonia |
| HP:0004305 | Involuntary movements |
| HP:0010844 | EEG with multifocal slow activity |
| HP:0004322 | Short stature |
