CACNA1D and deafness: Segdups, defined as regions with > 95% homology, are features that are causally implicated in recurrent CNVs mediated by NAHR and were identified in seven deafness genes: TSPEAR (4 segdups), OTOA (1), STRC (1), MYO3A (1), ESPN (1), OTOGL (1), CACNA1D (1).