| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bruck Syndrome 1 (FKBP10) | Onset of fractures in infancy, joint contractures, short stature, severe limb deformity, and progressive scoliosis | Autosomal Recessive | 17q21.2 | Substitution | FKBP10 | c.344G>A | (p.Arg115Gln) | Missense | Tauseef et al., 2023/2023 |
