| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Acromesomelic Dysplasia, Grebe type (GDF5) | Extremely short hands,toe-like finger etc | Autosomal Recessive | 20q11.22 | Insertion | GDF5 (CDMP1) | 297insC | Frame shift mutation | 0/Faiyaz-Ul-Haque et al., 2002 | |
| Acromesomelic Dysplasia, Grebe type (GDF5) | Extremely short hands,toe-like finger etc | Autosomal Recessive | 20q11.22 | Insertion | GDF5 (CDMP1) | 1114insGAGT | Frame shift mutation | 0/Basit et al., 2008 | |
| Acromesomelic Dysplasia, Grebe type (GDF5) | Extremely short hands,toe-like finger etc | Autosomal Recessive | 20q11.22 | Duplication | GDF5 (CDMP1) | 157_158dupC | Leu53Profs*41 | Frame shift & PTC | 0/Umair et al., 2016 |
| Acromesomelic Dysplasia, Grebe type (GDF5) | Extremely short hands,toe-like finger etc | Autosomal Recessive | 20q11.22 | Nonsense | GDF5 (CDMP1) | Trp291* | Premature Termination | 0/Umair et al., 2016 |
