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 104 ID (Ontology) DOID:0070390 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.
Also Known As "DEE104" ; "early infantile epileptic encephalopathy 104"
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 Genes
 developmental and epileptic encephalopathy 104       4
 for disease ribbon | developmental and epileptic encephalopathy 104       4
 model of | developmental and epileptic encephalopathy 104       4
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 104  4 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE104" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 104" EXACT
Secondary IDs
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MIM:619970