| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/1 |
| Female | 100.0% | 1/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/0 |
| Birth Weight abnormalities | 0% | 0/0 |
| Birth Head circumference abnormalities | 0% | 0/0 |
| Current Height abnormalities | 0% | 0/0 |
| Current Weight abnormalities | 0% | 0/0 |
| Current Head circumference abnormalities | 0% | 0/0 |
| 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 |
| Congenital stationary night blindness | 100.0% | 1/1 |
| obsolete Congenital chorioretinal dystrophy | 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 |