Catalog

Alpha thalassaemia - X-linked intellectual deficit

No MMS code

Link to WHO Definition

Alpha thalassaemia - X-linked intellectual deficit – http://id.who.int/icd/entity/1817564839

X-linked alpha thalassaemia intellectual deficit (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.