| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (DDX3X) | ID with additional neurodevelopmental and neurodegenerative features | X Linked | Xp11.4 | Substitution | DDX3X | c.236 G>A | (p.R79K) | Missense | Kellaris et al., 2020/2020 |
