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 66 ID (Ontology) DOID:0080446 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32.
Also Known As "DEE66" ; "early infantile epileptic encephalopathy 66"
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 Genes
 developmental and epileptic encephalopathy 66       1
 for disease ribbon | developmental and epileptic encephalopathy 66       1
 model of | developmental and epileptic encephalopathy 66       1
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 66  1 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE66" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 66" EXACT
Secondary IDs
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MIM:618067