Table 3

Distribution of phenotypes and genotypes in the two latent classes (LC)

LC 1/posterior phenotypeLC 2/anterior phenotype
Cases in LC (n)88201
Mean probability of class membership0.91 (0.88–0.94)0.96 (0.95–0.97)
 Phenotypes % of cases in class
HandPreaxial polydactyly15.91%52.74%*
Postaxial polydactyly96.59%40.80%*
Syndactyly12.50%53.73%*
FootPreaxial polydactyly45.45%95.52%*
Postaxial polydactyly69.32%1.49%*
Syndactyly23.86%83.08%*
CraniumMacrocephaly29/6054/162
Hypertelorism23/5668/177
Corpus callosum8/448/98
GenotypesCases (n)
Total85/88173/201
Included mutationsFrameshift5254
Nonsense2642
Missense654*
Splice123*
  • *P<0.00.