Table 1
Patient clinical data
| Characteristics | Patients (n = 40) | % |
|---|---|---|
| *Including pigmentary retinopathy and Leber congenital amaurosis. | ||
| Sex (M/F) | 18/22 | 45/55 |
| Neurological features | 40 | 100 |
| Hypotonia/ataxia | 35 | 87 |
| Mental retardation | 30 | 75 |
| Oculomotor apraxia | 34 | 85 |
| Breathing abnormalities | 17 | 42 |
| Ocular features | 21 | 52 |
| Retinal dystrophy* | 18 | 45 |
| Ocular colobomas | 3 | 7 |
| Renal features | 15 | 37 |
| NPH/urinary concentration defects | 10 | 25 |
| Cystic kidney disease | 3 | 7 |
| Other renal disease | 2 | 5 |
| Combined ocular and renal disease | 11 | 27 |
| Hepatic disease | 3 | 7 |
| Polydactyly | 8 | 20 |
