Alpha thalassemia mental retardation syndrome

Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, is a condition caused by a mutated gene. Females with this mutated gene have no specific signs or features, but may demonstrate skewed X chromosome inactivation. Hemizygous males tend to be moderately intellectually disabled and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip, and an everted lower lip. Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition.

It is associated with ATRX.