Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Skeletal dysplasia · Exocrine pancreatic insufficiency · Congenital dyserythropoietic anemia · Mitochondrial complex IV deficiency, nuclear-type
Pancreatic insufficiency-anemia-hyperostosis syndrome
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.
This condition has no sub-types.