Alpha-Thalassemia Mental Retardation Syndrome (ATRX)

Alpha-thalassemia mental retardation syndrome is a pan-ethnic disorder caused by pathogenic variants in the gene ATRX. It is inherited in an X-linked manner, and therefore affects predominantly males. Carrier females usually do not have any symptoms. The clinical presentation includes mild to profound intellectual disability, mild anemia, low muscle tone, genital anomalies, gastrointestinal symptoms, and distinctive facial features. Several specific variants have been correlated with disease severity, and therefore it may be possible to predict the disease severity in a subset of patients.

For information about carrier frequency and residual risk, please see the residual risk table.