MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Coffin-Lowry Syndrome MeSH Descriptor Data 2025