| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Three M Syndrome 1 (3M1, CUL7) | Growth retard,facial problem,large head etc | Autosomal Recessive | 6p21.1 | Deletion | CUL7 | 3379_3380delTG | Trp1127Glufs*38 | Frame shift mutation & PTC | Huber et al., 2009/2009 |
