| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Seckel Syndrome (3q) | Growth problem, MCP, Short stature etc | Autosomal Recessive | 3q22.1-q24 | - | - | - | - | - | Goodship et al., 2000/2000 |
