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 39 ID (Ontology) DOID:0080349 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31.
Also Known As "AGC1 deficiency" ; "early infantile epileptic encephalopathy 39" ; "epileptic encephalopathy with global cerebral demyelination"
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 Genes
 developmental and epileptic encephalopathy 39       1
 for disease ribbon | developmental and epileptic encephalopathy 39       1
 model of | developmental and epileptic encephalopathy 39       1
Spanning Tree (Parents/Children)
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
autosomal genetic disease                       |
 |__autosomal recessive disease_________________|
                                                developmental and epileptic encephalopathy 39  1 rec.
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Is a autosomal recessive disease
developmental and epileptic encephalopathy
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Synonyms
  • "AGC1 deficiency" EXACT
    "early infantile epileptic encephalopathy 39" EXACT
    "epileptic encephalopathy with global cerebral demyelination" EXACT
Secondary IDs
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MESH:C567847
MIM:612949
ORDO:353217