In humans, Piezo1 gain-of-function mutations are associated with a hereditary red blood cell condition termed dehydrated hereditary stomatocytosis, while Piezo2 gain-of-function mutations are associated with three phenotypically overlapping conditions termed distal arthrogryposis type 5, Gordon Syndrome, and Marden–Walker Syndrome (Piezo2) (Albuisson et al., 2013; Andolfo et al., 2013; Bae et al., 2013; Coste et al., 2013; McMillin et al., 2014). Here, PIEZO2 is linked to Arthrogryposis with oculomotor limitation and electroretinal anomalies.