| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Progressive Symmetric Erythrokeratoderma (KRT83) | hyperkeratotic plaques etc | Autosomal Recessive | 12q12?q14.1 | Deletion | KRT83 | 811delA | Ser271fs | FS & PTC | 0/Shah et al., 2017 |
