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Summary Literature (0)
DOID:0080984 - X-linked intellectual developmental disorder 109


Disease Ontology 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.

Synonyms: Fragile XE syndrome, fragile site on chromosome Xq28

Xenbase Genes : aff2


OMIM:
OMIM:309548 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109; XLID109

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)