Coffin-Lowry Syndrome

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.

Year introduced: 2003

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Do not include MeSH terms found below this term in the MeSH hierarchy.

Tree Number(s): C10.597.606.360.455.249, C16.320.322.500.249, C16.320.400.525.249

MeSH Unique ID: D038921

Entry Terms:

• Coffin Lowry Syndrome
• Syndrome, Coffin-Lowry
• Mental Retardation with Osteocartilaginous Abnormalities
• Coffin Syndrome
• Syndrome, Coffin

Previous Indexing:

• Mental Retardation/genetics (1975-2002)

See Also:

• Ribosomal Protein S6 Kinases

All MeSH Categories
Diseases Category
Nervous System Diseases
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Coffin-Lowry Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
Coffin-Lowry Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Coffin-Lowry Syndrome