To access the data, click or select the words “Appendix 5.” Pedigrees of patients carrying potential disease-causing variants (DCVs). Panels show: (a) P18, (b) P19, (c) P20, (d) P21. DCVs detected in probands are indicated below the individual using the following notation: M/M (homozygous), M/WT (heterozygous), M (hemizygous). Genotypes of family members included in the analysis are represented similarly. In each figure, 'M' denotes the specific variant identified in the proband. The corresponding variant is detailed in the upper-left corner of the figure. A double horizontal line between individuals indicates consanguinity, whereas a line consisting of one solid and one dashed segment represents a marriage between individuals from the same village.