| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ichthyosis, congenital, autosomal recessive 14 (SULT2B1) | Dry scaly skin, Large dark scales, Hyperkeratosis, Erythema, Pruritus | Autosomal Recessive | 19q13.33 | Missense | SULT2B1 | 419C>T | Ala140Val | Amino acid substitution | 2021/Fozia et al. 2021 |
