GM2A

Graph and Chart

Patient Overview : 1

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 1/1
Female 0% 0/1
Indifferent 0% 0/1
Unknown 0% 0/1
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 0% 0/1
Birth Head circumference abnormalities 0% 0/1
Current Height abnormalities 0% 0/1
Current Weight abnormalities 0% 0/1
Current Head circumference abnormalities 0% 0/1
Neurology    
Neurological abnormalities 100.0% 1/1
Generalized hypotonia 100.0% 1/1
Hyperacusis 100.0% 1/1
Brain abnormality 100.0% 1/1
Abnormal thalamic MRI signal intensity 100.0% 1/1
Facial abnormalities    
Abnormality of the eye 100.0% 1/1
Cherry red spot of the macula 100.0% 1/1
Nystagmus 100.0% 1/1
Visual and hearing impairments    
Abnormal vision 100.0% 1/1
Cherry red spot of the macula 100.0% 1/1