Homozygosity mapping in family 71154 used either the whole-exome sequence data for affected individual 71154 II:2 or SNP genotyping data generated using the Affymetrix Genome-Wide Human SNP Array v.6.0 (Affymetrix) in both siblings 71154 II:1 and II:2. AgileMultiIdeogram, which is based on a previously published method43 modified to use software NGS-generated VCF rather than SAM files, was used to generate a visual output plus numerical chromosomal coordinates for autozygous regions of interest.