| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Woodhouse-Sakati syndrome (DCAF17) | Sensorineural hearing loss, alopecia, mental retardation, hypogonadism | Autosomal Recessive | 2q31.1 | Splicing-site deletion | DCAF17 | 1423-1_1425delGACA | ?? | Exon skipping | 2021/Fozia et al. 2021 |
