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Alpha-thalassemia x-linked intellectual disability syndrome


Other Names for this Disease
  • Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked
  • ATR, nondeletion type
  • ATRX syndrome
  • XLMR hypotonic face syndrome
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Overview


Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.  It is caused by mutations in the ATRX gene and is inherited in an x-linked way.  Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.[1]
Last updated: 10/3/2012

References

  1. Stevenson RE. Alpha-thalassemia x-linked intellectual disability syndrome. GeneReviews. June 2010; http://www.ncbi.nlm.nih.gov/books/NBK1449/. Accessed 9/28/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Alpha-thalassemia x-linked intellectual disability syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha-thalassemia x-linked intellectual disability syndrome. Click on the link to view a sample search on this topic.