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Disease Ontology Browser
X-linked intellectual developmental disorder 109 (DOID:0080984)
Alliance: disease page
Synonyms: 'fragile site on chromosome Xq28'; 'Fragile XE syndrome'
Alt IDs: OMIM:309548, ORDO:100973
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory