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.