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CHD7-related CHARGE syndrome | RareConnect | RareConnect.io

/CHARGE syndrome

/CHD7-related CHARGE syndrome

CHD7-related CHARGE syndrome

Rare Disease

MONDO:1010178

Also Known As

CHARGE syndrome due to CHD7 deficiencyCHD7-related CHARGE syndrome

Definition

A CHARGE syndrome in which the cause of the disease is a variation in the CHD7 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:214800 ↗

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