A 2 Mb deletion impacting 15 genes–including PPP1R9A and the sarcoglycan epsilon (SGCE) gene - was found in a 12 year old girl (case 7D) referred for myoclonus dystonia, short stature, failure to thrive, severe anxiety and obsessive-compulsive behavior. Here, PPP1R9A is linked to myoclonus-dystonia syndrome.