Gene: ATP8A2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2 		0.010 GeneticVariation phenotype 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