Table 1.

Clinical characteristics, biochemical and genetic data on patients 1–12

Patient (M/F)	Age (years)	Clinical features	Diagnosis	Mutations
1 M (Drijvers et al. 2010)	0.8	Psychomotor retardation, failure to thrive, protein-losing enteropathy, epilepsy	ALG6-CDG	p.A333V (c.998 C > T); del exon 3 (c.257 + 5 G > A)
2 F	1	Psychomotor retardation, failure to thrive, hypoglycemia, ataxia	PMM2-CDG	hom. p.F119L (c.357 C > A)
3 F (Morava et al. 2010a)	5	Glaucoma, psychomotor retardation, abnormal liverfunction, hypotonia, inverted nipples	SRD5A3-CDG	p.S10x (c.29 C > A)
4 F (Morava et al. 2008)	10	Cutis laxa, failure to thrive, psychomotor retardation, myopathy	ATP6V0A2-CDG	hom. p.R63x (c.187 C > T)
5 F (Morava et al. 2009)	11	Psychomotor retardation, failure to thrive, diarrhea, CMP, ataxia, hypotonia	PMM2-CDG	p.R141H (c.422 G > A); p.F119 L (c.357 C > A)
6 M	5	Positive family history, elevated transaminases, cholestasis	CDG-IIx	Unknown
7 F	8	Liver failure, psychomotor retardation, clotting abnormalities	CDG-IIx	Unknown
8 F	3	Strabismus, hypotonia, psychomotor retardation	PMM2-CDG	p.F119L (c.357 C > A); p.E151G (c.452A > G)
9 M	18	Delayed motor development	CDG-Ix	Unknown
10 M	16	Short stature, diarrhoea, hypoglycemia	CDG-Ix	Unknown
11 M	15	Psychomotor retardation, ataxia	PMM2-CDG	p.R123G (c.324 G > A); p.R162W (c.484 T > C)
12 F (Hutchagowder 2009)	11	Cutis laxa, growth delay, psychomotor retardation	ATP6V0A2-CDG	p.P405L (c.31908 C > T); p.R5101 (c.32579 G > T)