| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spondylocarpotarsal Synostosis Syndrome (FLNB) | Spondylocarpotarsal Synostosis Syndrome | Autosomal Recessive | 3p14.3 | Substitution | FLNB | c.220C>T | p.(Gln74*) | Nonsense | Shahid et al, 2023/2023 |
