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Human Disease
developmental and epileptic encephalopathy 92
- Term ID
- DOID:0080471
- Synonyms
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- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. (2)
- References
- Ontology
- Human Disease ( DOID:0080471 )
- is a type of
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