| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Peeling Skin Syndrome,Generalized (CHST8) | Continuous shedding of upper epidermis | Autosomal Recessive | 19q13.11 | Missense | CHST8 | 229C>T | Arg77Trp | Amino Acid Substitution | Cabral et al., 2012/2012 |
