MoIn494 1335 c.[349+1G>A];[349+1G>A] 2 3 Gestational stage in weeks 20w 8w 9w 10w 8w 10w After excluding linkage to 60% of the genome, the first marker to show homozygosity in the three affected members of MoLb1 was from the long arm telomere of chromosome 19. This marker was also homozygous in the three affected members of the German family. Additional markers from this region were then analyzed on all available members of the two families. The results show a large homozygous region of 15 cM shared by affected members in this family as well as in the German family. Histopathology HM HM HM HM HM PHM/HM Supplementary Figure S2. Pedigree structure of case MoIn494. “w” stands for week.