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 116 ID (Ontology) DOID:0070545 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.
Also Known As "DEE116"
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 Genes
 developmental and epileptic encephalopathy 116       2
 for disease ribbon | developmental and epileptic encephalopathy 116       2
 model of | developmental and epileptic encephalopathy 116       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
inherited metabolic disorder                    |
 |__amino acid metabolic disorder_______________|
                                                developmental and epileptic encephalopathy 116  2 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
amino acid metabolic disorder
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Synonyms
  • "DEE116" EXACT OMO:0003012
Secondary IDs
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MIM:620806