Pancreatic and Cerebellar Agenesis [OMIM#609069] is characterized by neonatal diabetes mellitus and cerebellar hypoplasia/agenesis. Characteristic dysmorphism can include triangular facies, small chin, beaked nose and low set, dysplastic ears. Generalized joint stiffness and bilateral talipes equinovarus have also been noted.
Mutations in the PTF1A [OMIM#607194] gene have been reported in patients with Pancreatic and Cerebellar Agenesis. PTF1A encodes a basic helix-loop-helix protein that is a sequence-specific DNA binding subunit of the trimeric pancreas transcription factor.
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