FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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General Information
Term syndromic X-linked intellectual disability Shrimpton type ID (Ontology) DOID:0060813 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31.
Also Known As "mental retardation, X-linked, syndromic 9" ; "MRXS9"
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__syndromic X-linked intellectual disability Shrimpton type
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Is a syndromic X-linked intellectual disability
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Synonyms
  • "mental retardation, X-linked, syndromic 9" EXACT
    "MRXS9" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q87.8
MIM:300709
ORDO:85324