Coffin-Lowry Syndrome

Coffin-Lowrys syndrom

Engelsk definition

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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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