| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH1 | Microcephaly | Autosomal Recessive | 8p23.1 | Deletion | MCPH1 | 1179delG | Arg393Serfs*50 | Frame shift mutation & PTC | 2013/Hussain et al., 2013 |
| MCPH1 | Microcephaly | Autosomal Recessive | 8p23.1 | Nonsense | MCPH1 | 74C>G | Ser25* | Premature Termination | 2002/Jackson et al., 2002 |
| MCPH1 | Craniosynostosis-MCP with chromose breakage | Autosomal Recessive | 8p23.1 | Nonsense | MCPH1 | 302C>G | Ser101* | Premature Termination | 0/Farooq et al., 2010 |
| MCPH1 | Microcephaly | Autosomal Recessive | 8p23.1 | Deletion | MCPH1 | 1-160,656_ 114+892del164250 | Met1_Asn95del | Deletion | 0/Ahmad et al., 2017 |
| MCPH1 | Microcephaly | Autosomal Recessive | 8p23.1 | Deletion | MCPH1 | 1-493520_ 2137-9110del577594 | Met1_Ala761del | deletion | 0/Ahmad et al., 2017 |
| Microcephaly (MCPH1) | Microcephaly | Autosomal Recessive | 8p23.1 | Delation | MCPH1 | c.1254delT | p. Asp419fs | Frameshift | Khan et al., 2022/2022 |
