Structured Summary
Abstract
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.
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Synonyms
5 entry terms
- Coffin Syndrome
- Mental Retardation with Osteocartilaginous Abnormalities
- Coffin Lowry Syndrome
- Syndrome, Coffin
- Syndrome, Coffin-Lowry
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
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History Note
2003
MeSH Record
Previous Indexing
- Mental Retardation/genetics (1975-2002)
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References
- National Library of Medicine. Coffin-Lowry Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D038921. http://id.nlm.nih.gov/mesh/2026/D038921
- Coffin-Lowry Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Coffin%E2%80%93Lowry_syndrome
- Coffin-Lowry Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1106881