Patient Overview : 1

General

Frequency of all clinical findings

Percentage Cases
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