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 28 ID (Ontology) DOID:0080452 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.
Also Known As "DEE28" ; "early infantile epileptic encephalopathy 28"
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 Genes
 developmental and epileptic encephalopathy 28       1
 for disease ribbon | developmental and epileptic encephalopathy 28       1
 model of | developmental and epileptic encephalopathy 28       1
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal recessive disease_________________|
                                                developmental and epileptic encephalopathy 28  1 rec.
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Is a autosomal recessive disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE28" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 28" EXACT
Secondary IDs
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MIM:616211