Also Known As
ATR, nondeletion typeATR-X syndromeAlpha Thalassemia X-linked Intellectual Disability SyndromeAlpha thalassemia X-linked intellectual disability syndromeAlpha thalassemia X-linked mental retardation syndromeAlpha thalassemia/intellectual disability syndrome X-linkedAlpha thalassemia/mental retardation syndrome X-linkedalpha thalassemia-X-linked intellectual disability syndromealpha-thalassemia/intellectual disability syndrome nondeletion typealpha-thalassemia/mental retardation syndrome nondeletion typealpha-thalassemia/mental retardation syndrome, X-linked dominantALPHA-thalassemia/intellectual disability syndrome, X-linkedALPHA-thalassemia/mental retardation syndrome, X-linkedATR, Nondeletion typeATRXATRX syndromeAlpha thalassemia intellectual disability syndrome, nondeletion type, X-linkedAlpha thalassemia mental retardation syndrome, nondeletion type, X-linkedAlpha-thalassemia X-linked intellectual disability syndromeAlpha-thalassemia-X-linked intellectual disability syndromeAlpha-thalassemia/intellectual disability syndrome, Nondeletion typeAlpha-thalassemia/mental retardation syndrome, Nondeletion typeXLMR hypotonic face 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.