| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Acromesomelic Dysplasia type Maroteaux (NPR2) | Short middle & distal segments etc | Autosomal Recessive | 9p13.3 | Missense | NPR2 | 890C>T | Thr297Met | Amino Acid Substitution | 0/Bartels et al., 2004 |
