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 31A ID (Ontology) DOID:0080437 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
Also Known As "DEE31" ; "DEE31A" ; "developmental and epileptic encephalopathy 31" (for all, see Synonyms field below)
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 Genes
 developmental and epileptic encephalopathy 31A       1
 for disease ribbon | developmental and epileptic encephalopathy 31A       1
 model of | developmental and epileptic encephalopathy 31A       1
Spanning Tree (Parents/Children)
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 31A  1 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE31" EXACT OMO:0003012
    "DEE31A" EXACT OMO:0003012
    "developmental and epileptic encephalopathy 31" EXACT
    "early infantile epileptic encephalopathy 31" EXACT
Secondary IDs
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MIM:616346