| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Netherton syndrome (SPINK5) | Sparse eyebrows, Congenital lamellar ichthyosis, Generalized erythroderma | Autosomal Recessive | SPINK5 | Splice site | SPINK5 | 882 + 1G>T | 2021/Fozia et al. 2021 |
