Four of the reported variants (ID 3, 5, 13, 22) were within genes associated with recessively inherited diseases, where the patients also had an additional rare SNV identified by WGS in the same gene, presumably in a compound heterozygous state: ERCC5 (MIM133530), STRC (MIM606440), SYNE1 (MIM608441), and DST (MIM113810). The gene discussed is DST; the disease is hereditary disease.