USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Klinefelter's syndrome - male with more than two X chromosomes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.010 Biomarker disease BEFREE Another case was initially diagnosed with nonsyndromic hearing loss and USH2 and KS were discovered incidentally after the genetic analysis. 31035849 2019