Figure S1. Illumina SNP array HumanOmniExpress-24 Beadchip B-allele frequency (BAF) plots of the telomeric segment spanning 14q (chr14:62584057-107287663) confirms a de novo complex genomic rearrangement (CGR) and ROH/AOH in BAB7004. Figure S2. Sanger sequencing and segregation of selected rare SNVs affecting pathogenic genes in BAB7004 detected by trio analysis of ES data. Genomic coordinates are in hg19 (PPTX 1716 kb)