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 46 ID (Ontology) DOID:0080456 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
Also Known As "DEE46" ; "early infantile epileptic encephalopathy 46"
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 Genes
 developmental and epileptic encephalopathy 46       6
 for disease ribbon | developmental and epileptic encephalopathy 46       6
 model of | developmental and epileptic encephalopathy 46       6
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 46  6 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE46" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 46" EXACT
Secondary IDs
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MIM:617162