Summary of clinical information and mutation detection rates for subgroups of the cohort (including preliminary clinical diagnoses).

(*) Despite the clinically suspected mosaic condition, only blood derived DNA was available for the analysis. This might be a reason for the negative test results. (**) The recently described causative gene KMT2A is not covered by TS1. (***) The diagnosis was confirmed by targeted microarray that revealed a deletion of exon 1 in LIS1. (XLSX)