Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.

Abstract excerpt

Until 2021, the ZNF699 gene was not associated with any human genetic disease. There were only two studies exploring the associations between variants in ZNF699 and alcohol dependence. In 2021 Bertoli-Avella et al. reported 13 patients with a ZNF699 gene mutation. All patients presented global developmental delay and with systemic manifestations. A new phenotype was proposed and called DEGCAGS syndrome (OMIM...

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