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Human Disease
developmental and epileptic encephalopathy 43
- Term ID
- DOID:0080447
- Synonyms
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- DEE43
- early infantile epileptic encephalopathy 43
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (2)
- References
- Ontology
- Human Disease ( DOID:0080447 )
- is a type of
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