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Human Disease

developmental and epileptic encephalopathy 56

Term ID
DOID:0080282
Synonyms
  • 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 )
Relationships
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Genes Involved
Zebrafish Models