| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ciliopathy Syndrome (INPP5E) | intellectual disability, obesity, congenital retinal dystrophy, and hypogonadism | Autosomal Recessive | 9q34.3 | nonsense mutation | INPP5E | 1879C>T | Gln627* | Pre-mature Termination | Khan et al., 2019/2019 |
