MeSH Browser

MeSH Supplementary: ATR-X syndrome
Unique ID: C538258
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538258
Entry Term(s): 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
Heading Mapped to: *alpha-Thalassemia; *Mental Retardation, X-Linked
Frequency: 72
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/17

ATR-X syndrome MeSH Supplementary Concept Data 2024