Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection dysphagia and profound deafness – a case report for dual diagnosis

摘要

BackgroundPhenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered from two kinds of different Mendelian disease are very rare.