OTOA and deafness: Here, we detected additional patients with homozygous deletions for many of the regions, including 7 individuals homozygous for the recurrent NPHP1 whole-gene deletion and corresponding clinical phenotypes and a single individual with the recurrent OTOA gene deletion and deafness but no further patients for the other identified OMIM-morbid regions (Supplemental Figures 3 and 6).