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Table 2 Clinical description of the 29 PMM2-CDG adult patients

From: 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Mean age at last examination in years (range) 24 (15–49)
Gender M/F 13/16
Short stature 13/25 (52%)
Ovarian failure 16/16 (100%)
Cerebellar ataxia 29/29 (100%)
SDFS at last examination (years) 1-3 16/29 (55%)
4-5 6/29 (21%)
6-7 7/29 (24%)
Mean age at walking in years (range) 4 (1,25-14)
Neuropathy 13/22 (59%)
Skeletal involvement Kyphoscoliosis 17/24 (71%)
Osteopenia/osteoporosis 7/7 (100%)
Ophthalmological signs Retinopathy (fundus oculi or ERG) 10/29 (35%)
Strabismus 25/29 (86%)
Epilepsy 8/23 (35%)
Venous thrombosis 5/21 (24%)
Stroke-like episodes (adulthood) 0/18 (0%)
Reading/writing capacity Acquired 6/15 (40%)
Able to deciphering 4/15 (27%)
Unable to read/write 5/15 (33%)
Language abilities Speak sentences 18/27 (67%)
Speak words 6/27 (22%)
Absent language 3/27 (11%)
Schooling Diploma* 2 /21 (14%)
Adapted education in normal school 11/21 (53%)
Special institute for disabled individuals 7/21 (33%)
Professional status Sheltered work 9/22 (41%)
Unable to work 7/22 (32%)
School age (15–18 years) 6/22 (27%)
Living place Independent 1/16 (6%)
Institution 5/16 (31%)