| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Microcephaly,Growth failure & Retinopathy (PLK4) | Microcephaly,growth failure &retinopathy | Autosomal Recessive | 4q28.2 | Intronic | PLK4 | 2811?5C>G | Arg936Serfs*1 | Frame shift mutation & PTC | Martin et al., 2014/2014 |
