| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Odonto-Onycho-Dermal Dysplasia (WNT10A) | tricho-odonto-onycho-dermal | Autosomal Recessive | 2q35 | Missense | WNT10A | 392C>T | Ala131Val | Amino Acid Substitution | Nawaz et al., 2009/2009 |
