FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Stocco Dos Santos type X-linked intellectual disability ID (Ontology) DOID:0112126 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22.
Also Known As "SDSX" ; "Stocco dos Santos X-linked mental retardation syndrome"
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__Stocco Dos Santos type X-linked intellectual disability
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Is a syndromic X-linked intellectual disability
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Synonyms
  • "SDSX" EXACT OMO:0003012
    "Stocco dos Santos X-linked mental retardation syndrome" EXACT
Secondary IDs
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MIM:300434
ORDO:85288