| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cenani?Lenz Syndrome (LRP4) | Limbs disorder,kidney agenesis,Teeth problem | Autosomal Recessive | 11p11.2 | Missense | LRP4 | 2858T>C | Leu953Pro | Amino Acid Substitution | Khan et al., 2013/2013 |
