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CHARGE syndrome

MIM.214800 8q12.1

CHARGE association

 

CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness.

Etiology

-  germline mutations in the gene CHD7 coding for the chromodomain helicase DNA-binding protein-7 (MIM.608892).

Cytogenetics

-  der(9)t(9;13) (#11940088#)
-  der(6)t(4;6) (#11940088#)

See also

-  malformative associations


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