" /> Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis - CISMeF





Preferred Label : Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome c oxidase, subunit IV, isoform 2 gene (COX4I2, 607976.0001);

Prefixed ID : #612714;

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27/07/2025


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