| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Woodhouse Sakati Syndrome (DCAF17) | alopecia,hypogonadism,DEM,diabetes etc | Autosomal Recessive | 2q31.1 | Deletion | DCAF17 | 270delA | Lys90Asnfs8* | Frame shift mutation & PTC | Ali et al.,2015/2015 |
