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ATR-X syndrome [Supplementary Concept]

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

Date introduced: August 25, 2010

MeSH Unique ID: C538258

Heading Mapped to:

Entry Terms:

  • Alpha thalassemia mental retardation syndrome, non deletion type, X-linked
  • ATR non deletion type
  • Alpha-thalassemia X-linked mental retardation syndrome
  • Alpha Thalassemia X-Linked Intellectual Disability Syndrome
  • XLMR-Hypotonic Face Syndrome
  • Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked
  • ATR, Nondeletion Type
  • Alpha Thalassemia-Mental Retardation, X-Linked
  • Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type
  • ATRX Syndrome
  • X-Linked Alpha-Thalassemia Mental Retardation Syndrome
  • X-linked alpha thalassemia mental retardation syndrome
  • Alpha Thalassemia X-Linked Mental Retardation Syndrome

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