| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| SANDD Syndrome | sinoatrial node dysfunction and deafness | Autosomal Recessive | 3p21.1 | Insertion | CACNA1D | 1208_1209insGGG | 403_404insGly | Frame shift mutation | Baig et al., 2011/2011 |
