CHARGE syndrome: diagnostic criteria

Evidence-based neurology checklist on charge syndrome: diagnostic criteria: Genetics This is usually caused by mutations in the CHD7 gene: this accounts for 75% of cases The gene belongs to the chromodomain gene family Major criteria Minor criteria Synonym

Genetics

  • This is usually caused by mutations in the CHD7 gene: this accounts for 75% of cases 
  • The gene belongs to the chromodomain gene family

Major criteria

Minor criteria

Synonym

References

  1. Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis 2006; 1:34. 

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