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Human Disease

developmental and epileptic encephalopathy 27

Term ID
DOID:0080444
Synonyms
  • 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 )
Relationships
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Zebrafish Models