Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Although recessively inherited ABCA2 variants have been reported in two patients who had intellectual disability with global developmental delays, our study demonstrates the role of an ABCA2 variant in the pathogenesis of ataxia with dysarthria. 31047799 2019