Pancreatic insufficiency-anemia-hyperostosis syndrome

Orpha code: 199337OMIM code: 612714

Definition

A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Disease data

Classification

Disease

ORPHA code

199337

OMIM code

612714

ICD10 code

E88.8

ICD11 code

5C53.2Y

*Soruce

No additional description.

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Description of the disease *