Term Name: | developmental and epileptic encephalopathy 27 |
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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. |
Ontology: | Human Disease [DOID:0080444] ( DOID:0080444 ) |