| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH8 (CEP135) | Microcephaly | Autosomal Recessive | 4q12 | Deletion | CEP135 | 970delC | Gln324Serfs*2 | Frame shift mutation & PTC | 2012/Hussain et al., 2012 |
| MCPH8 (CEP135) | Microcephaly | Autosomal Recessive | 4q12 | Nonsense | CEP135 | c.3157G>T | Glu1053* | PTC | /Rasool et al. 2020 |
| MCPH8 (CEP135) | Microcephaly 8 | Autosomal Recessive | 4q12 | Substitution | CEP135 | c.1473+1G4A | p. E417Gfs*2 | Frameshift | Farooq et al., 2016/2016 |
