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developmental and epileptic encephalopathy 4
Summary
- Synonym
-
- DEE4
- early infantile epileptic encephalopathy 4
- Definition
- A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080436
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012554 | Absent thumbnail |
| HP:0100660 | Dyskinesia |
| HP:0100716 | Self-injurious behavior |
