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. 2011 May 4;34(4):923–927. doi: 10.1007/s10545-011-9325-5

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)