| Gender |
|
|
| Male |
0% |
0/1 |
| Female |
100.0% |
1/1 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
1/1 |
| Molar tooth sign on MRI |
100.0% |
1/1 |
| Brain abnormality |
100.0% |
1/1 |
| Abnormality of the cerebellar vermis |
100.0% |
1/1 |
| Ataxia |
100.0% |
1/1 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
100.0% |
1/1 |
| obsolete Congenital chorioretinal dystrophy |
100.0% |
1/1 |
| Congenital stationary night blindness |
100.0% |
1/1 |
| Visual loss |
100.0% |
1/1 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
100.0% |
1/1 |
| Recurrent urinary tract infections |
100.0% |
1/1 |