Conditions / Endocrine
pancreatic agenesis 1
info · Endocrine
A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12.
Signs and symptoms
- Oligohydramnios
- Failure to thrive
- Decreased circulating C-peptide concentration
- Exocrine pancreatic insufficiency
- Pancreatic hypoplasia
- Pancreatic aplasia
- Neonatal insulin-dependent diabetes mellitus
- Intrauterine growth retardation