X-Linked Alpha Thalassemia Mental Retardation Syndrome (ATR-X)
X-Linked Alpha Thalassemia Mental Retardation Syndrome (ATR-X) Definition
6.X-linked alpha thalassemia mental retardation syndrome or ATR-X for brevity is a disorder that is caused by the mutation of the ATR X gene which affects the 3D structure of the chromatin located in the cell nucleus. It is manifest through severe learning difficulties, an unusual facial appearance, unusual genitalia and alpha thalassemia.