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 74 ID (Ontology) DOID:0112210 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34.
Also Known As "DEE74" ; "early infantile epileptic encephalopathy 74"
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 Genes
 developmental and epileptic encephalopathy 74       2
 for disease ribbon | developmental and epileptic encephalopathy 74       2
 model of | developmental and epileptic encephalopathy 74       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 74  2 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE74" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 74" EXACT
Secondary IDs
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MIM:618396