| 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 | 2720 C>T | Thr907Met | Amino Acid Substitution | 0/Khan et al., 2012 |
| Acromesomelic Dysplasia type Maroteaux (NPR2) | Short middle & distal segments etc | Autosomal Recessive | 9p13.3 | Splice site | NPR2 | 2986+2 T>G | Frame shift mutation | 0/Khan et al., 2012 | |
| Acromesomelic Dysplasia type Maroteaux (NPR2) | Short middle & distal segments etc | Autosomal Recessive | 9p13.3 | Missense | NPR2 | 1801C>A | Arg601Ser | Amino Acid Substitution | 0/Irfanullah et al., 2015 |
| Acromesomelic Dysplasia type Maroteaux (NPR2) | Short middle & distal segments etc | Autosomal Recessive | 9p13.3 | Missense | NPR2 | 2245C>T | Arg749Trp | Amino Acid Substitution | 0/Irfanullah et al., 2015 |
| Acromesomelic Dysplasia type Maroteaux (NPR2) | short stature,skeletal deformities | Autosomal Recessive | 9p13.3 | Missense Mutation | NPR2 | 941 T>G | Leu314 Arg | Amino acid substitution | 0/Irfanullah et.al.,,,2018 |
