Table 3.
Distribution of phenotypes and genotypes in the two latent classes (LC)
| LC 1/posterior phenotype | LC 2/anterior phenotype | ||
| Cases in LC (n) | 88 | 201 | |
| Mean probability of class membership | 0.91 (0.88–0.94) | 0.96 (0.95–0.97) | |
| Phenotypes | % of cases in class | ||
| Hand | Preaxial polydactyly | 15.91% | 52.74%* |
| Postaxial polydactyly | 96.59% | 40.80%* | |
| Syndactyly | 12.50% | 53.73%* | |
| Foot | Preaxial polydactyly | 45.45% | 95.52%* |
| Postaxial polydactyly | 69.32% | 1.49%* | |
| Syndactyly | 23.86% | 83.08%* | |
| Cranium | Macrocephaly | 29/60 | 54/162 |
| Hypertelorism | 23/56 | 68/177 | |
| Corpus callosum | 8/44 | 8/98 | |
| Genotypes | Cases (n) | ||
| Total | 85/88 | 173/201 | |
| Included mutations | Frameshift | 52 | 54 |
| Nonsense | 26 | 42 | |
| Missense | 6 | 54* | |
| Splice | 1 | 23* | |
*P<0.00.