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Human Disease
developmental and epileptic encephalopathy 27
- Term ID
- DOID:0080444
- Synonyms
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- DEE27
- early infantile epileptic encephalopathy 27
- Definition
- A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. (2)
- References
- Ontology
- Human Disease ( DOID:0080444 )
- is a type of
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