FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term developmental and epileptic encephalopathy 59 ID (Ontology) DOID:0080291 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
Also Known As "DEE59" ; "early infantile epileptic encephalopathy 59"
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 Genes
 developmental and epileptic encephalopathy 59       2
 for disease ribbon | developmental and epileptic encephalopathy 59       2
 model of | developmental and epileptic encephalopathy 59       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 59  2 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE59" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 59" EXACT
Secondary IDs
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MIM:617904