| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Microcephaly (CASK) | Microcephaly | X Linked Dominant | Xp11.4 | Substitution | CASK | c.1289G>A | p. Arg430His | Missense | Khan et al., 2022/2022 |
