To date, three causative genes have been identified for OPDM, LDL receptor-related protein 12 (LRP12), GAIP/RGS19-interacting protein (GIPC1), and NOTCH2NLC, which are responsible for OPDM1, OPDM2, and OPDM3, respectively [9–12]. Here, NOTCH2NLC is linked to oculopharyngodistal myopathy.