| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Microcephaly (AKNA) | Primary microcephaly (MCPH) | Autosomal Recessive | 9q32 | Delation | AKNA | c.2737delG | p.(Glu913Argfs*42) | Frameshift | Waseem et al., 2021/2021 |
