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Boucher-Neuhäuser Syndrome (BNS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, spinocerebellar ataxia, and chorioretinal syndrome, and associated with a variant in the . Although many reports have mentioned the presence of cognitive impairment, a neuropsychological assessment of a BNS case has never been published. Here, we provide a detailed description of a young adult patient with BNS who has a homozygous pathogenic variant in the A 21-year-old man with pr