Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Keyphrases

• KMT2E 100%
• Heterozygous Variant 100%
• Microdeletion 25%
• Matchmaker Exchange 12%
• Gastrointestinal Abnormalities 12%
• Facial Gestalt 12%
• Microcephaly 12%
• Dominant Negative Effect 12%
• Infantile Epileptic Encephalopathy 12%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• Intellectual Disability 33%
• Haploinsufficiency 33%