Alpha Thalassemia X-linked Intellectual Disability SyndromeNational Organization for Rare Disorders, Inc.
Important
General DiscussionAlpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by mental retardation, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia. Alpha thalassemia, which is a condition where there is a defect in the production of the oxygen-carrying pigments of red blood cells (hemoglobin), is not seen in every case. Additional abnormalities are usually present in most cases. ATR-X syndrome is inherited as an X-linked recessive genetic condition. Supporting OrganizationsGenetic and Rare Diseases (GARD) Information Center
March of Dimes
NIH/National Institute of Mental Health
NIH/National Institute of Neurological Disorders and Stroke
Thalassemia Support Foundation
The Arc
For a Complete ReportThis is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Alpha Thalassemia X-linked Intellectual Disability SyndromeNational Organization for Rare Disorders, Inc. |
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