Table 1.

Skeletal phenotype in various CDG types.

CDG Type	Osteoporosis	Osteopenia	Skeletal Dysplasia	Prenatal-onset Severe Skeletal Dysplasia	Limb Shortening	Growth Failure/Short Stature	Pseudodiastrophic Dysplasia	Gillessen-Kaesbach and Nishimura Skeletal Dysplasia	Desbuquois Dysplasia	Kniest Dysplasia	Schneckenbecken Dysplasia	Chondrodysplasia Punctata	Scoliosis/Kyphosis Kyphoscoliosios/	Hip Discolaction	Abnormal Digit Morphology/Brachytelephalangy	Joint Laxity	Ehlers-Danlos-like Phenotype	Abnormal Cartilage Development	Advanced Bone Age	References
PMM2-CDG	+	+	+		+	+				+										[11,12,13,14,15,16,17,18,19,20,21]
ALG12-CDG			+		+	+	+						+							[22,23,24,25]
ALG3-CDG			+	+	+	+						+								[26]
ALG9-CDG			+	+	+	+		+					+	+						[27,28,29,30]
ALG6-CDG															+					[31,32]
PGM3-CDG			+	+	+	+			+											[33,34,35,36]
COG7-CDG			+		+	+														[37,38]
COG1-CDG			+		+	+														[39]
COG8-CDG			+		+	+														[40]
CSGALNACT1-CDG			+		+	+			+							+		+		[41,42]
SLC35D1-CDG			+	+	+	+					+		+						+	[43,44]
B4GALT7-CDG		+	+			+										+	+			[45,46,47,48]
B3GAT3-CDG		+	+			+							+			+	+			[49]
TMEM165-CDG	+	+	+			+			+				+			+		+		[50]
GPI-biosynthesis defects			+												+					[51,52,53,54,55,56,57,58,59]