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.