Pancreatic insufficiency-anemia-hyperostosis syndrome
Pancreatic insufficiency-anemia-hyperostosis syndrome
Definition
A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
Also known as pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome — per MONDO