| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Tooth Agenesis,Oligodontia (LTBP3) | oligodontia and short stature | Autosomal Recessive | 11p12?q13.3 | Nonsense | LTBP3 | 2322C>G | Tyr774* | Premature Termination | 0/Noor et al., 2009 |
