Coffin-Lowry Syndrome is an X-linked dominantly inherited disorder caused by mutations in the RPS6KA3 gene. Male patients usually have severe intellectual disabilities while female intellectual disabilities are more variable, from nonexistent to profound. Most affected individuals have distinctive facial and hand characteristics. Other symptoms include microcephaly, spinal curvature, skeletal abnormalities, and stimulus-induced drop episodes (SIDEs) (affected individuals remain conscious but collapse briefly when startled or are unexpectedly excited).
General information links for Coffin-Lowry Syndrome: