| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Joubert Syndrome 9 (JBTS9, CC2D2A) | Neurologic problem,RP,Renal anamolies | Autosomal Recessive | 4p15.32 | Splice site | CC2D2A | 2003+1G>C | Frame shift mutation | Noor et al., 2008/2008 |
