Table 1. The phenotypes and genotypes in our MLII patients.

Finding/Patients		1	2	3	4	5	6	7	8
General	Gender/Age(years)	M/1.5	M/1	F/2.5	F/2.5	M/2	F/1.5	M/1.5	M/1.5
	Height(cm)	46	73.5	75	75	67	50	50	70
	Weight(kg)	10	7	9	9	8	9	7.5	8
	Age of onset	Birth	2m	5m	5m	6m	7m	6m	6m
	Onset of signs	Feeding difficulties	Feeding difficulties	Feeding difficulties	Feeding difficulties	Kyphosis	Kyphosis	Kyphosis	Finger stiffness
Craniofacial	Coarse face	+	+	+	+	+	+	+	+
	Corneal clouding	+	+	+	+	+	+	+	-
	Gingival hyperplasia	+	+	+	+	+	+	+	+
Skeletal	Claw hand	+	+	+	+	+	+	+	+
	Pectus	+	-	-	-	+	-	+	+
	Joint stiffness	+	+	+	+	+	+	+	+
	Vertebral scoliosis	-	-	-	-	+	+	+	+
	Unaided walking	-	-	-	-	-	-	-	-
Abdomen	Hepatomegaly	+	+	-	-	-	-	-	-
	Splenomegaly	+	+	-	-	-	-	-	-
	Inguinal hernia	+	+	-	-	-	+	+	+
Speech	Speak single words	+	-	+	+	-	-	-	+
Cardiovascular (echocardiacography)	Mitral	N	N	N	N	N	regurgitation	N	N
	Tricuspid	regurgitation	N	N	N	N	N	regurgitation	N
	Aortic	prolapse, regurgitation	N	N	N	N	N	N	N
	Left Atrial	N	N	N	N	N	N	N	N
	Left Ventricular	enlargement	N	N	N	N	N	N	N
Family history	Consanguineous parents	-	-	-	-	-	-	-	-
	Affected sibling	-	-	-	-	-	-	1 brother	-
Activity of GlcNAc-1-phosphotransferase (plasma)	β-D-glucuronidase (10.7–33.7nmol/h/ml)	877.8	694.3	890.7	724.8	816.9	654.2	880.8	818.6
	α-D-mannosidase (13.7–66.7nmol/h/ml)	1006.1	914.5	980.2	956.3	1005.2	857.4	912.3	1008.2
GNPTAB mutation		c.1090C>T (p.R364X)	c.1212C>G (p.Y404X)	c.99delC (p.S33Sfs50X)	c.2455G>T (p.E819X)	c.2213C>A (p.S740X)	c.1071G>A (p.W357X)	c.2821dupA (p.I941Nfs4X)	c.1090C>T (p.R364X)
		c.2550_2554delGAAA (p.K850NfS10X)	c.2715+1G>A	c.2715+1G>A	c.2715+1G>A	c.3613C>T (p.R1205X)	ND	ND	c.1212C>G (p.Y404X)