FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome Xp11.22 duplication syndrome ID (Ontology) DOID:0112037 (Human Disease)
Definition A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes.
Also Known As "MRX17" ; "MRX31" ; "X-linked mental retardation 17" (for all, see Synonyms field below)
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X-linked monogenic disease_____________
non-syndromic intellectual disability__|
                                       non-syndromic X-linked intellectual disability
                                        |__chromosome Xp11.22 duplication syndrome
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Is a non-syndromic X-linked intellectual disability
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Synonyms
  • "MRX17" EXACT OMO:0003012
    "MRX31" EXACT OMO:0003012
    "X-linked mental retardation 17" EXACT
    "X-linked mental retardation 31" EXACT
    "Xp11.22 microduplication syndrome" EXACT
Secondary IDs
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MIM:300705