SOX5 and fragile X syndrome: The examination for fragile X syndrome and the panel analysis for syndromic diseases (2021) followed by re-evaluation of exome data (2024) revealed unremarkable findings, apart from variants of uncertain significance in the SOX5 (rs780885506) and CIC (NM_001304815.2, Exon 2: c.2509G>A, p.(Gly837Arg)) genes, which were each carried by an unaffected parent and therefore unlikely to contribute to the patient’s phenotype.