Coffin-Lowry Syndrome
Synonyms
Coffin Lowry Syndrome
Coffin Syndrome
Mental Retardation with Osteocartilaginous Abnormalities
Syndrome, Coffin
Syndrome, Coffin-Lowry
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.
See Also