| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal Dysplasia Type 9 (ECTD9, HOXC13) | Hair & nail abnormalities | Autosomal Recessive | 12q13.13 | Duplication | HOXC13 | 200?203dup | His68Glnfs*84 | Frame shift mutation & PTC | 2013/Ali et al.,2013 |
| Ectodermal Dysplasia Type 9 (ECTD9, HOXC13) | Hair & nail abnormalities | Autosomal Recessive | 12q13.13 | Nonsense | HOXC13 | 404C>A | Ser135* | Premature Termination | 2013/Ali et al.,2013 |
