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 |