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Coffin-Lowry Syndrome MeSH Descriptor Data 2022


MeSH Heading
Coffin-Lowry Syndrome
Tree Number(s)
C10.597.606.360.455.249
C16.320.322.500.249
C16.320.400.525.249
Unique ID
D038921
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D038921
Scope Note
A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
Entry Term(s)
Coffin Syndrome
Mental Retardation with Osteocartilaginous Abnormalities
Previous Indexing
Mental Retardation/genetics (1975-2002)
See Also
Ribosomal Protein S6 Kinases
Public MeSH Note
2003
History Note
2003
Date Established
2003/01/01
Date of Entry
2002/07/03
Revision Date
2018/06/30
Coffin-Lowry Syndrome Preferred
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