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developmental and epileptic encephalopathy 78
Summary
- Synonym
-
- DEE78
- early infantile epileptic encephalopathy 78
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112214
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0001249 | Intellectual disability |
| HP:0000508 | Ptosis |
| HP:0000668 | Hypodontia |
| HP:0001298 | Encephalopathy |
| HP:0002063 | Rigidity |
| HP:0001265 | Hyporeflexia |
| HP:0002376 | Developmental regression |
| HP:0001508 | Failure to thrive |
| HP:0001257 | Spasticity |
