Table 2 Background and basic neurodevelopmental information on children with SLC13A5 mutations in this study.
Subject | Family | Age (years) | Sex | Motor delay | Language delay | Regression | Muscle tone | Movement disorder | MRI brain | Dental issues |
|---|---|---|---|---|---|---|---|---|---|---|
1 | A | 11.8 | F | Y | Y | Y | Low | Y-dystonia | Normal | Teeth hypoplasia |
2 | A | 2 | M | Y | Y | N | Low | N | Normal | Teeth hypoplasia |
3 | B | 2.9 | F | Y | Y | Y | NR | NR | Normal | Teeth hypoplasia + Gingival hyperplasia |
4 | C | 5.7 | F | Y | Y | N | Low | N | Focal frontal lobe thickening | Gingival hyperplasia |
5 | C | 8.7 | M | Y | Y | N | Low | N | Normal | Gingival hyperplasia |
6 | D | 9.6 | F | Y | Y | NR | NR | NR | Normal | NR |
7 | E | 18.7 | F | Y | Y | N | Normal | N | Hyperintense foci in parietal white matter | Teeth hypoplasia + amelogenesis imperfecta |
8 | E | 15.5 | M | Y | Y | N | Normal | N | Normal | Amelogenesis imperfecta |
9 | F | 4 | M | Y | Y | Y | Increased | Y-dystonia | Focal loss of gray matter | N |