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:
- X-Linked Alpha-Thalassemia Mental Retardation Syndrome
- XLMR-Hypotonic Face Syndrome
- X-linked alpha thalassemia mental retardation syndrome
- 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
- Alpha Thalassemia X-Linked Mental Retardation Syndrome
- Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked
- ATR, Nondeletion Type
- Alpha Thalassemia-Mental Retardation, X-Linked
- ATRX Syndrome
- Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type