| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Osteochondrodysplasia (TBX2) | chondrodysplasia, short stature, and global developmental delay | 17q23.2 | Substitution | TBX2 | c.529A>T | p.Lys177* | Nonsense | MM Rafeeq et al., 2023/2023 |
