Table 3.

Disorders associated with genes in the KMT2 gene family and common recurring phenotypic features

Gene	OMIM phenotype	DD	ID	ASD	Sleep	Sz	GI	SS	Scol	OFC
KMT2A	Wiedemann-Steiner syndrome	+	+	+		+	+	+		↓
KMT2B	Dystonia 28, childhood-onset	+	+			+		+	+	↓
KMT2C	Kleefstra syndrome 2	+	+	+	+	+	+	+	+	↓
KMT2D	Kabuki syndrome 1	+	+			+	+	+	+	↓
KMT2E	O’Donnell-Luria-Rodan syndrome	+	+	+	+	+	+			↑
SETD1A	NDD with speech impairment and dysmorphic facies	+	+	+	+	+	+			–
SETD1B	ID with seizures and language delay	+	+	+		+				–
ASH1L	Autosomal dominant ID 52	+	+	+	+	+	+			↑

ASD, autism spectrum disorder; DD, developmental delay; GI, gastrointestinal symptoms (eg, constipation, reflux, gastrointestinal malformation); ID, intellectual disability; NDD, neurodevelopmental disorder; OFC, occipitofrontal circumference; Scol, scoliosis; Sleep, sleep disturbances; SS, short stature; Sz, seizures.