FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked intellectual developmental disorder 109 ID (Ontology) DOID:0080984 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.
Also Known As "fragile site on chromosome Xq28" ; "Fragile XE syndrome"
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 X-linked intellectual developmental disorder 109       1
 for disease ribbon | X-linked intellectual developmental disorder 109       1
 model of | X-linked intellectual developmental disorder 109       1
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked recessive disease__________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                X-linked intellectual developmental disorder 109  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
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Synonyms
  • "fragile site on chromosome Xq28" EXACT
    "Fragile XE syndrome" EXACT
Secondary IDs
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GARD:2378
MIM:309548
ORDO:100973