Baseline phenotypes and genotypes of selected population
| Phenotypes | Affected/reported cases (n) | |
| Hand | Preaxial polydactyly | 124/294 |
| Postaxial polydactyly | 170/292 | |
| Syndactyly | 124/297 | |
| Foot | Preaxial polydactyly | 238/297 |
| Postaxial polydactyly | 70/295 | |
| Syndactyly | 193/297 | |
| Cranium | Macrocephaly | 85/228 |
| Hypertelorism | 92/237 | |
| Corpus callosum | 16/145 | |
| Genotypes | Cases (n) | |
| Included in analysis | Frameshift | 107 |
| Nonsense | 68 | |
| Missense | 60 | |
| Splice | 24 | |
| Excluded in analysis | CNV | 29 |
| Translocation | 3 | |
| No specific information on mutation | 6 | |