| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH12 (CDK6) | Microcephaly | Autosomal Recessive | 7q21.2 | Missense | CDK6 | 589G>A | Ala197Thr | Amino Acid Substitution | 2013/Hussain et al., 2013 |
