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Human Disease
developmental and epileptic encephalopathy 4
- Term ID
- DOID:0080436
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0080436 )
- is a type of
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