FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term intellectual disability and myopathy syndrome ID (Ontology) DOID:0070600 (Human Disease)
Definition A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 on chromosome 12p12.
Also Known As "ABCC9-related intellectual disability and myopathy" ; "AIMS" ; "IDMYS"
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 intellectual disability and myopathy syndrome      11
 for disease ribbon | intellectual disability and myopathy syndrome      11
 model of | intellectual disability and myopathy syndrome      11
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       |__intellectual disability and myopathy syndrome  11 rec.
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Synonyms
  • "ABCC9-related intellectual disability and myopathy" EXACT
    "AIMS" EXACT OMO:0003012
    "IDMYS" EXACT OMO:0003012
Secondary IDs
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MIM:619719