Conditions / Endocrine
pancreatic agenesis 2
info · Endocrine
A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12.
Signs and symptoms
- Diabetes mellitus
- Exocrine pancreatic insufficiency
- Pancreatic hypoplasia
- Small for gestational age
- Steatorrhea
- Pancreatic aplasia
- Mild global developmental delay