Interestingly, the HAE1 cluster identified by us would correspond to the fourth described for the department of Boyacá or the Andean region, where previous studies have reported frequencies of affected individuals higher than expected for mucopolysaccharidosis type III (San Filippo syndrome), Ellis Van-Creveld syndrome, and mucopolysaccharidosis type IV (Morquio syndrome) [20, 22, 23]. Here, SERPING1 is linked to Ellis-van Creveld syndrome.