Table 2.
Clinical features of ALG12-CDG compared to our patient
| ALG12-CDG patients (n = 15) | Our patient | |
|---|---|---|
| Dysmorphic features | 13/15 | + |
| Developmental delay | 12/15 (2 NR) | + |
| Seizures | 2/15 (8 NR) | − |
| Ocular abnormalities | 4/15 (5 NR) | + |
| Sensorineural deafness | 2/15 (8 NR) | − |
| Hypotonia | 10/15 (4 NR) | + |
| Failure to thrive | 8/15 (4 NR) | + |
| Cardiac abnormalities | 3/15 (10 NR) | − |
| Genitourinary abnormalities | 5/15 (7 NR) | − |
| Recurrent infection | 8/15 (5 NR) | − |
| Hypogammaglobulinemia | 8/15 (3 NR) | + |
| Coagulation abnormalities | 10/15 (5 NR) | + |
| Abnormal CDT analysis | 12/15 (3 NR) | + |
| Microcephaly | 7/15 (4 NR) | + |
| Skeletal abnormalities | 4/15 (8 NR) | − |
| Abnormal brain imaging | 9/15 (5 NR) | + |
NR, not reported. Clinical features of ALG12-CDG: Esfandiari et al., 2019; Sturiale et al., 2019; Tahata et al., 2019; de la Morena-Barrio et al., 2020.