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 33 ID (Ontology) DOID:0080463 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.
Also Known As "DEE33" ; "early infantile epileptic encephalopathy 33"
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 developmental and epileptic encephalopathy 33       2
 for disease ribbon | developmental and epileptic encephalopathy 33       2
 model of | developmental and epileptic encephalopathy 33       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 33  2 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE33" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 33" EXACT
Secondary IDs
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MIM:616409