PDLIM1, PDZ and LIM domain 1, 9124

N. diseases: 25; N. variants: 0
Disease: Supravalvular aortic stenosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.010 GeneticVariation disease BEFREE The Williams-Beuren syndrome (WBS) is a complex developmental disorder with multisystemic manifestations including supravalvular aortic stenosis (SVAS), a so-called elfin face, a hoarse voice, and a specific cognitive phenotype. 12080386 2002