ATRX is named for its causal role in ATR-X syndrome (α-thalassemia with mental impairment, X-linked), an X-linked disorder characterized by developmental delays, urogenital abnormalities, distinctive craniofacial features, and α-thalassemia caused by insufficient α-globin expression [14]. Here, ATRX is linked to Alpha-thalassemia - X-linked intellectual disability syndrome.