In the AS vs. HC group, BDNF, SMARCB1, and PIK3A emerged as the most prominently ranked genes, whereas DDX27, RBMX, and SPATA17 and ASZ1, CDH1, and CHDH held the highest rankings in the OAS vs. HC and AS vs. OAS groups, respectively (Fig. 2A-C). The gene discussed is SMARCB1; the disease is microphthalmia with limb anomalies.