A hereditary X-linked syndrome that occurs almost exclusively in males and affects multiple organ systems. In addition to intellectual disability and mild alpha-thalassemia, affected individuals may have distinct FACIES, ear, nose, and mouth abnormalities, MICROCEPHALY; ANEMIA; GASTROESOPHAGEAL REFLUX; CONSTIPATION and UROGENITAL ABNORMALITIES. Mutations and duplications in the ATRX gene have been identified. OMIM: 301040
Also Known As:
ATR non deletion type; ATR, Nondeletion Type; ATRX Syndrome; Alpha Thalassemia X-Linked Intellectual Disability Syndrome; Alpha Thalassemia X-Linked Mental Retardation Syndrome; Alpha Thalassemia-Mental Retardation, X-Linked; Alpha thalassemia mental retardation syndrome, non deletion type, X-linked; Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type; Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked; Alpha-thalassemia X-linked mental retardation syndrome; X-Linked Alpha-Thalassemia Mental Retardation Syndrome; X-linked alpha thalassemia mental retardation syndrome; XLMR-Hypotonic Face Syndrome