GJB2 and Alpha-1-antitrypsin deficiency: All ARC who did not pursue or plan to pursue alternative options carried moderate severity conditions (achromatopsia OMIM #262300, alpha-1 antitrypsin deficiency OMIM #613490, and GJB2-related DFNB1 nonsyndromic hearing loss and deafness OMIM #220290) or biotinidase deficiency (OMIM #253260), classified as a severe condition (see Discussion about genotype-phenotype spectrum in this condition).