Pancreatic insufficiency-anemia-hyperostosis syndrome
ORPHA:199337· ICD-10 E88.8
Definition
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal