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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000737 | Irritability |
| HP:0002321 | Vertigo |
| HP:0000708 | Atypical behavior |
| HP:0001336 | Myoclonus |
| HP:0007270 | Atypical absence seizure |
| HP:0000741 | Apathy |
| HP:0011195 | EEG with focal sharp slow waves |
| HP:0000752 | Hyperactivity |
| HP:0002353 | EEG abnormality |
| HP:0012758 | Neurodevelopmental delay |
