Disease: Involuntary Movements ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		0.010 GeneticVariation phenotype BEFREE Our study strongly supports the finding that this recurrent, de novo, variant in NUS1 causes developmental and epileptic encephalopathy with involuntary movement, ataxia and scoliosis. 31656175 2019