| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| DDX3X | 300160 | 300958 | Xp11.4 | c.1250 A>C | | Mental retardation, X-linked 102 | 1 |
| DDX3X | 300160 | 300958 | Xp11.4 | c.1383dupA (p.Tyr462IlefsX3) | | Mental retardation, X-linked 102 | 1 |
| DDX3X | 300160 | 300958 | Xp11.4 | c.1490_1492delCTA (p.Thr498del) | | Mental Retardation X-Linked 102; MRX102 | 1 |
| DDX3X | 300160 | 300958 | Xp11.4 | c.623delA (p.K208fsX13) | | Mental Retardation X-Linked 102; MRX102 | 1 |