| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hypotrichosis Type 6 (DSG4) | Hypotrichosis | Autosomal Recessive | 18q21.1 | Gross Deletion | DSG4 | Ex5_8 del | Truncated Protein | Frame shift mutation | 0/kljuic et al., 2003; Rafiq et al., 2004 |
| Hypotrichosis Type 6 (DSG4) | Hypotrichosis | Autosomal Recessive | 18q21.1 | Deletion | DSG4 | 87delG | p.Lys30Argfs*54 | Frame shift mutation & PTC | 0/wajid et al., 2007 |
| Hypotrichosis Type 6 (DSG4) | Hypotrichosis | Autosomal Recessive | 18q21.1 | Deletion | DSG4 | 85-1_191 | Truncated Protein | Frame shift mutation | 0/Ullah et al., 2015 |
