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Xia–Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop‐gain or frameshift mutations in the AT‐hook DNA binding motif containing 1 (AHDC1) gene. Patients usually present in early infancy with hypotonia and developmental delay and later exhibit intellectual disability (ID). The overall presentation is variable, however, and the emerging clinical picture is still evolving...
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