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Abstract Background Mutations in SOX6 have recently been recognized as a new molecular cause of neurodevelopmental disorders characterized by intellectual disability, behavioral changes, and nonspecific facial and digital skeletal abnormalities. To date, T. p.Arg93*) was molecularly confirmed which leads to truncation of the SOX6 protein in its N‐terminus, upstream of any known functional domain. Conclusion SOX6‐associated neurodevelopmental delayis ultrarare with less than 25 cases described in the literature. We report a new case who presented with early‐onset mildly reduced intellectual function, facial asymmetry, skeletal abnormalities and dystonic tremor of hands and neck, substantially improved by levodopa. Given the therapeutic implications, SOX6 mutations should be considered in patients with complex dystonia parkinsonism.