| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Dyggve-Melchior-Clausen Syndrome (DYM) | Aberrant ossification of the epiphyses and metaphysis of long bone, as well as deformity of the vertebrae associated with intellectual dysfunction | Autosomal Recessive | 18q21.1 | Substitution | DYM | c.1205T>A | Leu402Ter | Missense | Bakar et al., 2023/2023 |
