exocrine pancreatic insufficiency dyserythropoietic anemia & calvarial hyperostosis (EPIDACH)

Genetics

• associated with defects in COX4I2

Clinical manifestations

• patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, & anemia soon after birth

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/612714