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Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

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Description

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

9

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Genes

External Links

  • OMIM

    600001

  • Orphanet

    2255

  • HPO
  • Medgen

    C4012454

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