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 91 ID (Ontology) DOID:0080472 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.
Also Known As "infantile or early childhood epileptic encephalopathy 1"
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 Genes
 developmental and epileptic encephalopathy 91       2
 for disease ribbon | developmental and epileptic encephalopathy 91       2
 model of | developmental and epileptic encephalopathy 91       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal dominant disease__________________|
                                                developmental and epileptic encephalopathy 91  2 rec.
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Is a autosomal dominant disease
developmental and epileptic encephalopathy
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Synonyms
  • "infantile or early childhood epileptic encephalopathy 1" EXACT
Secondary IDs
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MIM:617711