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Alternative hypotheses not addressed by current genomic investigations
| Feature | Rationale for failure |
|---|---|
| Postzygotic mutation | Alternate allele present at low levels or absent from blood and/or saliva |
| Variants not detected by exome sequencing | Non-coding DNA variants Complex structural rearrangements |
| Genetic heterogeneity | Small sample size |
| Incomplete penetrance, variable expressivity, and non-Mendelian inheritance | Small sample size |
| Epigenetic causes | Not due to DNA variants |
