Alpha thalassemia-X-linked intellectual disability syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Definition
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.
Also known as Alpha Thalassemia X-linked Intellectual Disability Syndrome, Alpha thalassemia X-linked mental retardation syndrome, alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia/intellectual disability syndrome X-linked, Alpha thalassemia/mental retardation syndrome X-linked, alpha-thalassemia/intellectual disability syndrome nondeletion type, alpha-thalassemia/mental retardation syndrome, X-linked dominant, ATR-X syndrome, ATR, nondeletion type — per MONDO