Patient Overview : 5

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 20.0% 1/5
Female 80.0% 4/5
Indifferent 0% 0/5
Unknown 0% 0/5
General    
Birth Length abnormalities 0% 0/5
Birth Weight abnormalities 0% 0/5
Birth Head circumference abnormalities 0% 0/5
Current Height abnormalities 0% 0/5
Current Weight abnormalities 0% 0/5
Current Head circumference abnormalities 0% 0/5
Neurology    
Neurological abnormalities 100.0% 5/5
Epileptic encephalopathy 80.0% 4/5
Absence seizures 20.0% 1/5
Central hypotonia 20.0% 1/5
Epileptic spasms 20.0% 1/5
Behavioral problems 33.3% 1/3
Pain insensitivity 33.3% 1/3
Facial abnormalities    
Abnormality of the eye 50.0% 2/4
Long eyelashes 50.0% 2/4
Abnormality of the mouth 50.0% 2/4
Smooth philtrum 50.0% 2/4
Short philtrum 25.0% 1/4
Visual and hearing impairments    
Abnormal vision 50.0% 2/4
Cortical visual impairment 50.0% 2/4