| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH14 (HsSAS-6) | Microcephaly 14, primary | Autosomal Recessive | 1p21.2 | Substitution | HsSAS-6 | c.185T>C | p.Ile62Thr | Missense | Khan et al., 2014/2014 |
