1665-1146 1665-1146 S1665-11462023000100069 10.24875/bmhim.22000039 Uruguay Uruguay Uruguay Uruguay Uruguay 00 02 2023 00 02 2023 80 1 69 73

1 2019 1 1-111 2 2008 22 191-205 3 Online Mendelian Inheritance in Man OMIM® 2017 4 2016 31 650-6 5 2009 30 379-90 6 2015 34 60-4 7 2011 6 80 8 2007 462 87-92 9 2021 78 234-8 10 2005 116 61 11 2018 47 1043-50 12 2020 106 (1S) (1S) S115-23 13 2017 109 111-4 14 2010 92 686-91 15 2021 12 732728 16 2005 3 189-93 17 2013 37 583-7 18 2018 109 276-80 19 2019 85 1180-7 20 1995 126 762-4