Two variants in SEPSECS (c.1274A > G:p.H425R) and TBC1D23(c.458T > C:p.M153T), had been reported in gnomAD or ExAC databases; however, no publications have ever reported the pathogenicity of these variants in pontocerebellar hypoplasia. The gene discussed is SEPSECS; the disease is pontocerebellar hypoplasia.