| Prevalence | 1:15,700–40,000 live births |
| Incidence | ~1:20,000–50,000 (varies by region) |
| Sex ratio | Slight male predominance (1.5:1) |
| Family recurrence | <5% (mostly de novo variants) |
| Mutational origin | ~80% de novo, ~20% inherited from affected or mosaic parent |
| Databases | OMIMOrphanetClinicalTrialsPubMed |