KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Hypertrichosis cubiti short stature ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4546640
Disease: Hypertrichosis cubiti short stature
Hypertrichosis cubiti short stature 		0.010 GeneticVariation phenotype BEFREE KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. 27759909 2017