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 23 ID (Ontology) DOID:0080415 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
Also Known As "DEE23" ; "early infantile epileptic encephalopathy 23" ; "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" (for all, see Synonyms field below)
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 developmental and epileptic encephalopathy 23       1
 for disease ribbon | developmental and epileptic encephalopathy 23       1
 model of | developmental and epileptic encephalopathy 23       1
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal recessive disease_________________|
                                                developmental and epileptic encephalopathy 23  1 rec.
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Is a autosomal recessive disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE23" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 23" EXACT
    "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT
    "Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT
Secondary IDs
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MIM:615859
ORDO:411986