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Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
rareA rare, syndromic diabetes mellitus 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).
- Identifiers
- MONDO:0010802 OMIM:600001Orphanet:2255
- Causal genes
- GATA6
- Also known as
- congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease · HDCA · heart defects, congenital, and other congenital anomalies · hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease · Yorifuji Okuno syndrome
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