Condition: Exocrine pancreatic insufficiency


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

rs1425998598 in BPTF gene and Exocrine pancreatic insufficiency PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.