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ATR-X syndrome MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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