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X-linked mental retardation FRAXE

Pathology: - associated with defects in AFF2 - correlated with FRAXE CCG(N) expansion. - normal individuals have 6-35 copies of the repeat cytogenetically positive, developmentally delayed males have > 200 copies & methylation of the associated CPG island

General

X-linked mental retardation; X-linked intellectual disability (XLID)

Database Correlations

OMIM 309548

References

  1. OMIM :accession 309548
  2. GeneReviews http://www.genetests.org/query?gene=AFF2