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 29 ID (Ontology) DOID:0080451 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
Also Known As "DEE29" ; "early infantile epileptic encephalopathy 29"
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 developmental and epileptic encephalopathy 29       2
 for disease ribbon | developmental and epileptic encephalopathy 29       2
 model of | developmental and epileptic encephalopathy 29       2
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal recessive disease_________________|
                                                developmental and epileptic encephalopathy 29  2 rec.
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Is a autosomal recessive disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE29" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 29" EXACT
Secondary IDs
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MIM:616339