Percentage | Cases | |
---|---|---|
Gender | ||
Male | 0% | 0/1 |
Female | 100.0% | 1/1 |
Indifferent | 0% | 0/1 |
Unknown | 0% | 0/1 |
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 |