WES revealed a splicing variant (NM_001244189.1: c.3303G > A) and a genomic region with a 1.38-kb deletion (NC_000014.9: g.58,926,242–58,927,621del) in KIAA0586 as causes of Joubert syndrome in a 9-month-old girl (Fig. 2). Here, KIAA0586 is linked to Joubert syndrome.