Fig. 1.
Descriptive statistics of the patient cohort. The cohort included 51 consecutive cases referred for CES at AJCH (a) Primary disease classification of the patients based on clinical indications. (b) Ancestry of the cohort (c) Parental consanguinity in the cohort (d) Proportion of patients who had undergone other forms of genetic testing, prior to CES, which returned negative or normal results.