| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Primary microcephaly (RTTN) | Primary microcephaly, primordial dwarfism, and brachydactyly | Autosomal Recessive | 18q22.2 | Substitution | RTTN | c.5648-5T>A | p.Ala1883Glyfs*6 | Exone skipping/Frameshift | Zakaria et al., 2019/2019 |
