Taken together, the clinical symptoms of siblings S1 and S2, who shared the same variations in PNPLA6 gene (c.1635 + 3G > T/c.3401A > T, p.Asp1134Val) as a compound heterozygosity, consisted of lower limb spastic paraparesis and a marked cerebellar oculomotor disorder accompanied by hypogonadotropic hypogonadism. This evidence concerns the gene PNPLA6 and hypogonadotropic hypogonadism.