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 85 ID (Ontology) DOID:0070380 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11.
Also Known As "DEE85" ; "early infantile epileptic encephalopathy 85"
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 developmental and epileptic encephalopathy 85       1
 for disease ribbon | developmental and epileptic encephalopathy 85       1
 model of | developmental and epileptic encephalopathy 85       1
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electroclinical syndrome
 |__developmental and epileptic encephalopathy__
X-linked monogenic disease                      |
 |__X-linked dominant disease___________________|
                                                developmental and epileptic encephalopathy 85  1 rec.
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developmental and epileptic encephalopathy
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Synonyms
  • "DEE85" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 85" EXACT
Secondary IDs
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MIM:301044