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developmental and epileptic encephalopathy 79
Summary
- Synonym
-
- DEE79
- early infantile epileptic encephalopathy 79
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112215
- 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 |
