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developmental and epileptic encephalopathy 74
Summary
- Synonym
-
- DEE74
- early infantile epileptic encephalopathy 74
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112210
- 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 |
