fragile site on chromosome Xq28Fragile XE syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.