has material basis in germline mutation in NUS1 hereditary disease NUS1-related disorder https://github.com/monarch-initiative/mondo/issues/10557 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. MONDO:1060287 NUS1-related disorders NUS1 related disorders