Disease: Dyskinetic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.010 GeneticVariation disease BEFREE All patients with ATP8A2 mutations (100%) demonstrated developmental delay, severe hypotonia and movement disorders, specifically chorea or choreoathetosis (100%), dystonia (27%) and facial dyskinesia (18%). 30012219 2018