X-linked intellectual developmental disorder 109

Term ID

DOID:0080984

Synonyms

• fragile site on chromosome Xq28
• Fragile XE syndrome

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. https://pubmed.ncbi.nlm.nih.gov/21739600/

References

• GARD:2378
• MIM:309548
• ORDO:100973

Ontology

Human Disease   ( DOID:0080984 )