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.