Wolfram Facts

DID YOU KNOW?

A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis.[2][8]

The following are the most important features that help with the diagnosis:[2]

  •  Juvenile-onset (age <16 years) diabetes mellitus
  •  Juvenile-onset optic atrophy (age <16 years)
  • Autosomal recessive inheritance
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