| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Palmoplantar Keratoderma Severe (3q27.2-q29) | Severe bilateral palms,soles & nails | Autosomal Recessive | 3q27.2-q29 | 0/Khan et al., 2010 |
