Coffin-Lowry Syndrome


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.