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 100 ID (Ontology) DOID:0070386 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42.
Also Known As "DEE100" ; "early infantile epileptic encephalopathy 100"
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 Genes
 developmental and epileptic encephalopathy 100       2
 for disease ribbon | developmental and epileptic encephalopathy 100       2
 model of | developmental and epileptic encephalopathy 100       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 100  2 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE100" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 100" EXACT
Secondary IDs
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MIM:619777