Xu-guang Qian

[Clinical phenotype and genetic analysis of a child with Basel-Vanagaite-Smirin-Yosef syndrome due to variant of MED25 gene].

[Clinical and genetic analysis of a child with MRXS34 syndrome due to variant of NONO gene].

A literature review showed that, among 23 BVSYS patients reported between 2015 and 2025, the most common clinical manifestations were developmental delay/intellectual disability and characteristic facial features, followed by speech impairment and characteristic facial features, and cardiac anomalies.