A previous study demonstrated that heterozygous mutations of PIK3R1(R649W) and the resultant impairment of the PI3K activation have been identified in patients with SHORT syndrome—a disorder characterized by Short stature, Hyperextensibility of joints and/or inguinal hernia, Ocular depression, Reiger anomaly and Teething delay [69]. Here, PIK3R1 is linked to SHORT syndrome.