Table 2.

KMT2E-Related Neurodevelopmental Disorder: Select Features

Feature% of Persons w/FeatureComment
Developmental delay56/58 (97%)
Intellectual disability31/37 (84%)Typically in the mild-to-moderate range
Brain abnormalities27/43 (63%)
Macrocephaly29/52 (56%)Incl relative macrocephaly compared to length/height
Gastrointestinal issues20/45 (44%)Most frequently constipation; gastroesophageal reflux & vomiting has also been reported
Sleep disturbance8/17 (47%)
Hypotonia23/50 (46%)
Autism spectrum disorder18/47 (38%)
Seizures16/56 (29%)
Microcephaly3/5 (60%)In persons w/missense pathogenic variants only (See Genotype-Phenotype Correlations.)

From: KMT2E-Related Neurodevelopmental Disorder

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