| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Microcephaly (PLK4) | Microcephaly, growth failure and retinopathy | 4q28.1 | 4q28.1 | Substitution | PLK4 | c.2811-5C>G | p. Arg936Serfs*1 | Frameshift | Martin et al., 2014/2014 |
