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 79 ID (Ontology) DOID:0112215 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.
Also Known As "DEE79" ; "early infantile epileptic encephalopathy 79"
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 developmental and epileptic encephalopathy 79       2
 for disease ribbon | developmental and epileptic encephalopathy 79       2
 model of | developmental and epileptic encephalopathy 79       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 79  2 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE79" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 79" EXACT
Secondary IDs
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MIM:618559