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 89 ID (Ontology) DOID:0112223 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1.
Also Known As "DEE89" ; "early infantile epileptic encephalopathy 89"
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 Genes
 developmental and epileptic encephalopathy 89       2
 for disease ribbon | developmental and epileptic encephalopathy 89       2
 model of | developmental and epileptic encephalopathy 89       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal recessive disease_________________|
                                                developmental and epileptic encephalopathy 89  2 rec.
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Is a autosomal recessive disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE89" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 89" EXACT
Secondary IDs
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MIM:619124