Two studies revealed CGG repeat expansions in NOTCH2NLC also cause OPDM phenotype (named OPDM3) [11, 12]; about half of patients with OPDM phenotype with the NOTCH2NLC expansions (OPDM3) show leukoencephalopathy, neuropathy, or other signs compatible with NIID1. Here, NOTCH2NLC is linked to oculopharyngodistal myopathy.