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Human Disease
developmental and epileptic encephalopathy 56
- Term ID
- DOID:0080282
- Synonyms
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- DEE56
- early infantile epileptic encephalopathy 56
- Definition
- A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. https://www.ncbi.nlm.nih.gov/pubmed/28777935
- References
- Ontology
- Human Disease ( DOID:0080282 )
- is a type of
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