Disease

developmental and 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.
Synonyms
  • DEE27
  • early infantile epileptic encephalopathy 27
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models