| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Tooth Agenesis,Oligodontia (MSX1) | oligodontia and tooth anamolies | Autosomal Recessive | 4p16.1?p16.3 | Missense | MSX1 | 655G>A | Ala219Thr | Amino Acid Substitution | 0/Chishti et al., 2006 |
