The seven patients of Cypriot origin with CHH/KS were identified with variants in genes linked with this phenotype: ANOS1, SRA1, CHD7, WDR11, FGFR1, RNF216, and POLR3A. A total of seven novel and two rare previously reported variants were identified in the patients of the current study and were found as novel or very rare in the ExAC population database (29). The gene discussed is POLR3A; the disease is cartilage-hair hypoplasia.