| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Microcephaly 4 (CASC5) | MCPH 4 | Autosomal Recessive | 15q15.1 | Substitution | CASC5 | c.6673-19T>A | p.Met2225Ilefs*7 | Frameshift | Szczepanski et al., 2016/2016 |
