TABLE 1.

The genetic variants and clinical features of our six patients.

ID		P1	P2	P3	P4	P5	P6
Gender		Male	Female	Male	Male	Male	Male
Age (years)		5	0.83	3	1	2.5	0.58
Gene		UBE2A	KMT2D	KDM6A	ANKRD11	KMT2A	KMT2A
Variant		c.439C > T, p.Q147*	c.5845delC, p.Q1949Sfs*98	c.655-1G > A	c.1757_1776del, p.V586Efs*41	c.7789C > T, p.Q2597*	c.2629_2630delGA, p.D877fs*8
Inheritance		Materal	De novo	De novo	De novo	De novo	De novo
Novel or reported		Novel	Reported	Novel	Novel	Novel	Reported
ACMG classifcation		Pathogenic	Pathogenic	Pathogenic	Pathogenic	Pathogenic	Pathogenic
Main features (2 point each if present)	Synophrys and/or thick eyebrows	−	−	−	−	+	−
	Short nose, concave nasal ridge and/or upturned nasal tip	+	−	−	+	+	+
	Long and/or smooth philtrum	−	−	−	−	−	−
	Thin upper lip vermilion and/or downturned corners of mouth	−	+	+	−	+	+
	Hand oligodactyly and/or adactyly	−	−	−	−	−	−
	Congenital diaphragmatic hernia	−	−	−	−	−	−
Suggestive features (1 point each if present)	Small hands and/or feet	+	+	+	+	+	+
	Microcephaly	−	−	+	+	+	+
	Global developmental delay and/or intellectual disability	+	+	+	+	+	+
	Prenatal growth retardation	−	−	−	−	−	−
	Postnatal growth retardation	+	+	+	+	+	+
	Hypertrichosis	−	−	−	−	+	+
	Short fifth finger	+	+	+	+	+	+
Other features		With mouth, hypertelorism, high palate, inguinal hernia, renal cyst	Long palpebral fissures with eversion of the lower lid, ventricular septal defect, single transverse palmar crease, prominent fingertip pads	Long palpebral fissures with eversion of the lower lid, Long eyelashes, defect in the atrial septum, Coarctation of aorta, single transverse palmar crease	Macrodontia of the upper central incisors	Ptosis, long eyelashes, hypertelorism	Ptosis, long eyelashes, hypertelorism, cryptorchidism, patent ductus arteriosus
Clinical scored		6	6	7	7	12	10