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) |