KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 10; N. variants: 9
Disease: Abnormality of skull size ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025874
Disease: Abnormality of skull size
Abnormality of skull size 		0.300 Biomarker phenotype GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019