| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Seckel Syndrome (CEP63) | MCP, short stature | Autosomal Recessive | 3q22.2 | Nonsense | CEP63 | 129G>A | Trp43* | Premature Termination | Sir et al., 2011/2011 |
