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

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