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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:0000546 | Retinal degeneration |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000668 | Hypodontia |
| HP:0000717 | Autism |
| HP:0000750 | Delayed speech and language development |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002133 | Status epilepticus |
