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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 612714
References
OMIM :accession 612714