Condition: Hepatosplenomegaly


rs1557196978 in ATP6AP1 gene and Hepatosplenomegaly PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1559810905 in IFIH1 gene and Hepatosplenomegaly PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.