| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spondyloepiphyseal dysplasia & HI (CHST3) | Spondyloepiphyseal & hearing loss | Autosomal Recessive | 10q22.1 | Nonsense | CHST3 | 802G>T | Glu268* | Premature Termination | Waryah et al., 2016/2016 |
