Alpha-thalassemia x-linked intellectual disability syndrome
Other Names for this Disease
- Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked
- ATRX syndrome
- ATR, nondeletion type
- XLMR hypotonic face syndrome
- Alpha-thalassemia-X-linked intellectual disability syndrome
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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.Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (
Last updated: 10/3/2012
- Stevenson RE. Alpha-thalassemia x-linked intellectual disability syndrome. GeneReviews. June 2010; http://www.ncbi.nlm.nih.gov/books/NBK1449/. Accessed 9/28/2012.
- Genetics Home Reference (GHR) contains information on Alpha-thalassemia x-linked intellectual disability syndrome. This website is maintained by the National Library of Medicine.
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