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 45 ID (Ontology) DOID:0080428 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
Also Known As "DEE45" ; "early infantile epileptic encephalopathy 45"
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 Genes
 developmental and epileptic encephalopathy 45       2
 for disease ribbon | developmental and epileptic encephalopathy 45       2
 model of | developmental and epileptic encephalopathy 45       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 45  2 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE45" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 45" EXACT
Secondary IDs
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MIM:617153