Clinical features of the JBTS3 patients
| Clinical features | Family 1 | Family 2 | |||||
|---|---|---|---|---|---|---|---|
| F, female; M, male; NA, not available; MTS, molar tooth sign; WCB, wheelchair bound. | |||||||
| *Also presented with spasticity, microcephaly and seizures; †deceased at 23 months; ‡normal kidney histology at autopsy; §abnormal ponto-mesencephalic junction and upper cerebellar pedoncules at autopsy. | |||||||
| Origin | Turkey | Switzerland | |||||
| Patient | 1 | 2 | 3 | 4 | 5* | 1 | 2 |
| Sex | F | M | F | M | F | F | F |
| Present age (years) | 28 | 27 | 23 | 21 | 17 | † | 23 |
| Early hypotonia | + | + | + | + | + | + | + |
| Age at independent walking (years) | 10 | 10 | 9 | WCB | WCB | † | 7 |
| Cognitive impairment | ++ | ++ | ++ | ++++ | ++++ | NA | + |
| Neonatal breathing problems | NA | NA | NA | NA | NA | + | + |
| Cerebellar ataxia | ± | − | + | − | − | + | + |
| Nystagmus | − | − | + | − | − | + | + |
| Optic atrophy | − | − | − | − | NA | − | − |
| Retinal dystrophy | − | + | − | − | NA | NA | + |
| Reduced vision | + | + | + | + | + | NA | + |
| Kyphoscoliosis | + | + | − | − | − | − | − |
| Retarded skeletal growth | NA | NA | + | + | + | − | − |
| Renal dysfunction | − | − | − | − | − | −‡ | − |
| MTS | + | + | + | + | + | +§ | + |
| Cerebellar vermis hypoplasia | + | + | + | + | + | + | + |