| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| X-linked recessive Ichthyosis, XLRI (STS) | Dry polygonal scales on their skin including the popliteal and antecubital fossae, sparing palms and soles | X-linked recessive | Xp22.31 | Delation | STS | Entire STS gene delation | Khan et al. 2023/2023 |
