CHARGE syndrome

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A complex set of abnormalities, the CHARGE association (coloboma, heart anomaly, choanal atresia, retardation of mental and somatic development, genital hypoplasia, ear abnormalities and/or deafness) that are due to mutation in the gene encoding the chromodomain helicase DNA-binding protein-7 or the semaphorin-3E gene. The PAX2 gene is involved in all the developmental primordia that are affected, but does not seem to be mutated.

Subjects: Medicine and Health.

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