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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:0011151 | Atypical absence status epilepticus |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002540 | Inability to walk |
| HP:0011097 | Epileptic spasm |
| HP:0100716 | Self-injurious behavior |
| HP:0001252 | Hypotonia |
| HP:0002506 | Diffuse cerebral atrophy |
