Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability.

Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson’s disease, dystonia, and congenital disorders of glycosylation. Additionally, cases describing genotypes and clinical features are rare. Herein, we report the case of a 23-year-old Chinese female patient who presented with tremors, intellectual disability, and epilepsy.