The remaining novel variants were: CCDC39:p.Glu598* (CADD, 37); CCDC40:c.1097delT (frameshift); CEP104:p.Glu698Lys (Joubert syndrome 25, Figure S5M, Table 3, Patient 9); DNAAF5:p.Val431Ala (Condel: 0.886, Figure S3F); DNAH5 duplication of exon 1–48 (unknown significance); HYDIN:p.Pro3213Arg (likely pathogenic, Figure S5E, Table 3, Patients 17–18). This evidence concerns the gene CCDC40 and Joubert syndrome.