The association of RC3α/DMXL2 with human diseases, e.g., Ohtahara syndrome (a syndromic deafness-associated disease with mutations in the RC3α/DMXL2 gene) and some non-syndromic hearing losses with sensorineural impairment [96,97,98], emphasizes the importance to further explore its function at ribbon synapses, including ribbon synapses of the retina. Here, DMXL2 is linked to early-infantile DEE.