Fig. 1.

Summary of genetic findings. a Percentage of patients with ≥ 1 de novo or inherited rare copy number variants and their respective classification of clinical relevance. b Total numbers, and medians, minimum and maximum numbers per patients of variants following the respective modes of inheritance identified by whole-exome sequencing in 51 child–parent trios. c Percentage of patients with (likely) disease-associated CNV or SV findings in established EE genes or with potentially disease-causing candidate genes. d Distribution of inheritance modes in diagnosed patients with (likely) EE-associated CNV or SV in established disease genes. e Results of (re-) classification of 56 secondary findings from whole-exome sequencing, of which 16% represented carriership of single alleles of recessive disorders and 12% indicated mainly dominant disease alleles as secondary findings. CNV copy number variant, SV sequence variant, VOUS  variants of unknown clinical significance, XL dom. X-linked dominant, XL rec. inh. X-linked recessive inherited