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developmental and epileptic encephalopathy 31A
Summary
- Synonym
-
- DEE31
- DEE31A
- developmental and epileptic encephalopathy 31
- early infantile epileptic encephalopathy 31
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080437
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010818 | Generalized tonic seizure |
| HP:0010819 | Atonic seizure |
| HP:0011195 | EEG with focal sharp slow waves |
| HP:0012075 | Personality disorder |
| HP:0012758 | Neurodevelopmental delay |
| HP:0000252 | Microcephaly |
| HP:0000348 | High forehead |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000504 | Abnormality of vision |
| HP:0000508 | Ptosis |
