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 3 ID (Ontology) DOID:0080440 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.
Also Known As "early infantile epileptic encephalopathy 3"
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 Genes
 developmental and epileptic encephalopathy 3       2
 for disease ribbon | developmental and epileptic encephalopathy 3       2
 model of | developmental and epileptic encephalopathy 3       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal recessive disease_________________|
                                                developmental and epileptic encephalopathy 3  2 rec.
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Is a autosomal recessive disease
developmental and epileptic encephalopathy
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Synonyms
  • "early infantile epileptic encephalopathy 3" EXACT
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MIM:609304