Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 2/3
Female 33.3% 1/3
General    
Birth Length abnormalities 0% 0/3
Birth Weight abnormalities 0% 0/3
Birth Head circumference abnormalities 0% 0/3
Current Height abnormalities 0% 0/3
Current Weight abnormalities 0% 0/3
Current Head circumference abnormalities 0% 0/3
Neurology    
Neurological abnormalities 100.0% 3/3
Abnormal muscle tone 66.7% 2/3
Drooling 66.7% 2/3
Spasticity 66.7% 2/3
Axial hypotonia 33.3% 1/3
Babinski sign 33.3% 1/3
Hypotonia 33.3% 1/3
Seizure 33.3% 1/3
Brain abnormality 100.0% 2/2
Cerebral hypomyelination 50.0% 1/2
Cerebral atrophy 50.0% 1/2
CNS hypomyelination 50.0% 1/2
Facial abnormalities    
Abnormality of the eye 100.0% 3/3
Nystagmus 100.0% 3/3
Strabismus 100.0% 3/3
Exotropia 33.3% 1/3
Hyperopic astigmatism 33.3% 1/3
Optic disc pallor 33.3% 1/3
Visual and hearing impairments    
Abnormal vision 100.0% 3/3
Hypermetropia 66.7% 2/3
Astigmatism 33.3% 1/3
Skeleton    
Skeletal abnormalities 100.0% 2/2
Abnormal shoulder morphology 50.0% 1/2
Pes planus 50.0% 1/2
Short neck 50.0% 1/2
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 100.0% 1/1
Increased circulating lactate concentration 100.0% 1/1