ELOVL4

Graph and Chart

Patient Overview : 2

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 2/2
Female 0% 0/2
Neurology    
Neurological abnormalities 100.0% 2/2
Seizures 100.0% 2/2
Limb hypertonia 100.0% 2/2
Spastic tetraplegia 50.0% 1/2
Brain abnormality 100.0% 1/1
Brain atrophy 100.0% 1/1
Delayed myelination 100.0% 1/1
Facial abnormalities    
Abnormality of the eye 50.0% 1/2
Pallor 50.0% 1/2
Photophobia 50.0% 1/2
Abnormality of the mouth 100.0% 2/2
Gingivitis 50.0% 1/2
Premature loss of teeth 50.0% 1/2
Delayed eruption of primary teeth 50.0% 1/2
Visual and hearing impairments    
Abnormal vision 100.0% 2/2
Myopia 50.0% 1/2
Amblyopia 50.0% 1/2
Abnormal visual electrophysiology 50.0% 1/2
Urogenital    
Abnormality of the urogenital system 50.0% 1/2
Decreased testicular size 50.0% 1/2
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 2/2
Generalized ichthyosis 100.0% 2/2