| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal Dysplasia Type 5 (ECTD5) | Hair & nail abnormalities | Autosomal Recessive | 10q24.32-q25.1 | - | - | - | - | - | 2005/Rafiq et al., 2005 |
