NUS1-related disorder

Any hereditary disease in which the cause of the disease is a variation in the NUS1 gene. Biallelic variants cause a congenital disorder of glycosylation. Heterozygous variants, including deletions, cause a complex neurological disorder with developmental delay, intellectual disability, epilepsy including developmental and epileptic encephalopathy and progressive myoclonus epilepsy, and movement disorders including myoclonus, dystonia, ataxia, tremor and parkinsonism. Rare NUS1 variants have also been associated with Parkinson's disease.