CHARGE syndrome: diagnostic criteria
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
CHARGE syndrome: diagnostic criteria. This is usually caused by mutations in the CHD7 gene: this accounts for 75% of cases.
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
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Minor criteria
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Synonym
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