Rare Disease Library

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Pancreatic and cerebellar agenesis

Hydrocephaly-cerebellar agenesis syndrome

Isolated cerebellar agenesis

Near total absence of cerebellum · Subtotal absence of cerebellum

Isolated cerebellar vermis agenesis

Isolated partial cerebellar vermis agenesis

Isolated total cerebellar vermis agenesis

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas