X-linked intellectual developmental disorder 109

Summary

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 site on chromosome Xq28, Fragile XE syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aff2

MIM:

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

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a), X-linked recessive disease (is_a)