| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal Dysplasia Type 4 (ECTD4, KRT85) | Hair & nail abnormalities | Autosomal Recessive | 12q12-q14.1 | Missense | KRTHB5 | 233G>A | Arg78His | Amino Acid Substitution | 2006/Naeem et al., 2006 |
| Ectodermal Dysplasia Type 4 (ECTD4, KRT85) | Hair & nail abnormalities | Autosomal Recessive | 12q12-q14.1 | Deletion | KRTHB5 | 1448_1449delCT | Pro483Argfs*18 | Frame shift mutation & PTC | 2010/Shimomura et al., 2010 |
