| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH3 (CDK5RAP2) | MCPH 3 | Autosomal Recessive | 9q33.2 | Nonsense | CDK5RAP2 | 246T>A | Tyr82* | Premature Termination | Hassan et al., 2007/2007 |
| MCPH3 (CDK5RAP2) | Microcephaly | Autosomal Recessive | 9q33.2 | Splice site | CDK5RAP2 | IVS26-15A>G | Frame shift mutation | 0/Bond et al., 2005 | |
| MCPH3 (CDK5RAP2) | Microcephaly | Autosomal Recessive | 9q33.2 | Nonsense | CDK5RAP2 | 1279C>T | Arg427* | PTC | 0/Ahmad et al., 2017 |
| MCPH3 (CDK5RAP2) | Microcephaly | Autosomal Recessive | 9q33.2 | Nonsense | CDK5RAP2 | c.448C>T | Arg150* | PTC | /Rasool et al. 2020 |
| MCPH3 (CDK5RAP2) | MCPH 3 | Autosomal Recessive | 9q33.2 | Substitution | CDK5RAP2 | c.4114C>T | p.Arg1372* | Nonsense | Sukumaran et al., 2017/2017 |
