| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Acromesomelic Dysplasia, Grebe type (BMPR1B) | Extremely short hands,toe-like finger etc | Autosomal Recessive | 4q22.3 | Nonsense | BMPR1B | 657G>A | Trp219* | Premature Termination | 0/Graul-Neumann et al., 2014 |
