Condition: IMMUNODEFICIENCY 47


rs1557196978 in ATP6AP1 gene and IMMUNODEFICIENCY 47 PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

PMID 27231034 2016 ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

rs878853275 in GDI1;ATP6AP1 gene and IMMUNODEFICIENCY 47 PMID 27231034 2016 ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.