Alpha Thalassemia X-Linked Intellectual Disability Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare, X-linked recessive inherited syndrome caused by mutations in the ATRX gene. It is characterized by intellectual disability, developmental delays, hypotonia, widely spaced eyes, small nose, low-set ears, tented upper lip, skeletal abnormalities, and a mild form of alpha thalassemia.

**Synonyms:** - ATRX - Alpha Thalassemia X-Linked Mental Retardation Syndrome - Alpha Thalassemia/Mental Retardation Syndrome X-Linked