| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ciliopathy Syndrome (BBS5) | intellectual disability, obesity, congenital retinal dystrophy, and hypogonadism | Autosomal Recessive | 2q31.1 | Deletion | BBS5 | 196delA | Arg66Glufs*12 | FS & Pre-mature Termination | Khan et al., 2019/2019 |
