| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH14 (SASS6) | Microcephaly | Autosomal Recessive | 1p21.2 | Missense | SASS6 | 185T>C | Ile62Thr | Amino Acid Substitution | 2014/Khan et al., 2014 |
