SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
Disease: Congenital musculoskeletal anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151491
Disease: Congenital musculoskeletal anomalies
Congenital musculoskeletal anomalies 		0.010 Biomarker group BEFREE Altered expression of other genes contained in the duplicated region may contribute to clinical features that are uncommon in the phenotypic spectrum of SNCA multiplications such as delayed developmental psychomotor milestones during infancy and musculoskeletal abnormalities. 22410449 2012