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 95 ID (Ontology) DOID:0070382 (Human Disease)
Definition A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.
Also Known As "DEE95" ; "early infantile epileptic encephalopathy 95"
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 Genes
 developmental and epileptic encephalopathy 95       1
 for disease ribbon | developmental and epileptic encephalopathy 95       1
 model of | developmental and epileptic encephalopathy 95       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 95  1 rec.
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Is a autosomal recessive disease
developmental and epileptic encephalopathy
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Synonyms
  • "DEE95" EXACT OMO:0003012
    "early infantile epileptic encephalopathy 95" EXACT
Secondary IDs
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MIM:618143