FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term non-syndromic X-linked intellectual disability 2 ID (Ontology) DOID:0112016 (Human Disease)
Definition A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3.
Also Known As "MRX2" ; "X-linked mental retardation 2"
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X-linked monogenic disease
 |__non-syndromic X-linked intellectual disability__
 |__X-linked dominant disease_______________________|
non-syndromic intellectual disability               |
 |__non-syndromic X-linked intellectual disability__|
                                                    non-syndromic X-linked intellectual disability 2
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Is a non-syndromic X-linked intellectual disability
X-linked dominant disease
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Synonyms
  • "MRX2" EXACT OMO:0003012
    "X-linked mental retardation 2" EXACT
Secondary IDs
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MIM:300428