- ... sweat chloride values No primary bone marrow failure Johanson-Blizzard syndrome (JBS) (OMIM 243800 ) UBR1 AR Exocrine pancreatic dysfunction ...
- ... Hepatosplenomegaly Hyperlipoproteinemia type 1D (OMIM 615947 ) GPIHBP1 AR Johanson-Blizzard syndrome (OMIM 243800 ) UBR1 AR Congenital exocrine pancreatic inflammation & ...
- ... one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described ...
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