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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:0001558 | Decreased fetal movement |
| HP:0001263 | Global developmental delay |
| HP:0002059 | Cerebral atrophy |
| HP:0001290 | Generalized hypotonia |
| HP:0002355 | Difficulty walking |
| HP:0001337 | Tremor |
| HP:0001257 | Spasticity |
| HP:0002020 | Gastroesophageal reflux |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002317 | Unsteady gait |
