| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MORM Syndrome (INPP5E) | MR, Obesity, RP, Micropenis | Autosomal Recessive | 9q34.3 | - | INPP5E | - | - | - | Hampshire et al., 2006/2006 |
| MORM Syndrome (INPP5E) | MR, Obesity, RP, Micropenis | Autosomal Recessive | 9q34.3 | Nonsense | INPP5E | 1879C>T | Gln627* | Premature Termination | Jacoby et al., 2009/2009 |
