| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH6 (CENPJ) | Microcephaly | Autosomal Recessive | 13q12.12-q12.13 | Deletion | CENPJ | 3243?3246delTCAG | Frame shift mutation | 2006/Gul et al., 2006 | |
| MCPH6 (CENPJ) | Microcephaly | Autosomal Recessive | 13q12.12-q12.13 | Deletion | CENPJ | 18delC | Ser7Profs*2 | Frame shift mutation & PTC | 2013/Hussain et al., 2013 |
