| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hypotrichosis with Recurrent Skin Vesicles (DSC3) | ragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid were observed on the affected individuals' scalps and on most of the skin covering their bodies | Autosomal Recessive | 18q12.1 | nonsense mutation | DSC3 | 2129T>G | Leu710X | Pre-mature Termination | Ayub et al., 2009/2009 |
