Table 3. Summary of the 13 Kabuki syndrome patients.

Variable	Patient
	1	2	3	4	5	6	7	8	9	10	11	12	13
Gender	F	F	M	M	F	F	M	M	F	M	F	M	M
Age first visit (yr)	At birth	At birth	0.08	At birth	At birth	At birth	0.16	0.33	3.75	0.08	10	0.25	0.16
Time until diagnosis (yr)	6	1.1	1.5	6.3	0.08	0.02	6.5	5.9	3.6	10.6	10	11.4	3.08
Growth	50p→62p	70p→75p	65p→15p	53p→75p	55p	52p	80p→4p	30p→1p	50p→5p	28p→18p	3p→45p	68p→9p	60p→15p
Facial anomaly	+	+	+	+	+	+	+	+	+	+	+	+	+
Heart anomaly	HLHS	CoA+VSD	AS+BAV	MS	HLHS	HLHS	CoA+BAV	CoA+VSD	-	-	-	AR	CoA+VSD
Eye anomaly	+	+	-	-	-	-	-	+	-	+	-	+	+
Mouth and teeth	-	+	+	+	-	-	+	+	+	+	-	+	-
Hearing problem	-	+	+	+	-	-	+	+	+	+	+	+	+
Renal anomaly	-	+	-	+	-	-	+	+	+	-	-	-	-
Skeletal anomaly	+	+	+	+	-	-	+	+	+	+	+	+	+
Finger tip fad	?	+	+	+	-	-	+	+	+	+	-	+	+
Developmental delay	+	+	+	+	?	?	-	+	+	+	+	+	+
Chromosome	46 XX	46XX	46XY	46XX	?	?	46XY	46XY	46XX	46XY	46XX	46XY	46XY
Causing gene	ND	KMT2D	KMT2D	KMT2D	ND	ND	KMT2D	KMT2D	KMT2D	KMT2D(-)	KMT2D	KMT2D	KMT2D
										KDM6A(-)
Amino acid		p.L1926fs*31	p.R4198*	p.M1379Vfs*52			p.Q3945*	p.T4332Ifs*2	p.Q5073*		p.Q3839*	p.S940*	p.E81*
Mutation type		Small insertion	Nonsense	Small deletion			Nonsense	Small deletion	Nonsense		Nonsense	Nonsense	Nonsense
Outcome	Alive	Alive	Alive	Alive	Dead	Dead	Alive	Alive	Alive	Alive	Alive	Alive	Alive

HLHS, hypoplastic left heart syndrome; CoA, coarctation of aorta; VSD, ventricular septal defect; AS, aortic stenosis; BAV, bicuspid aortic valve; AR, aortic regurgitation; ND, not done.