Patient Overview : 4

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 2/4
Female 50.0% 2/4
Indifferent 0% 0/4
Unknown 0% 0/4
General    
Birth Length abnormalities 0% 0/4
Birth Weight abnormalities 0% 0/4
Birth Head circumference abnormalities 0% 0/4
Current Height abnormalities 0% 0/4
Current Weight abnormalities 0% 0/4
Current Head circumference abnormalities 0% 0/4
Neurology    
Neurological abnormalities 100.0% 4/4
Absence seizures 25.0% 1/4
EEG with centrotemporal focal spike waves 25.0% 1/4
Intellectual disability 25.0% 1/4
Seizures 25.0% 1/4
Speech articulation difficulties 25.0% 1/4
Status epilepticus 25.0% 1/4
Behavioral problems 50.0% 2/4
Anxiety 25.0% 1/4
Attention deficit hyperactivity disorder 25.0% 1/4
Autism 25.0% 1/4
Brain abnormality 25.0% 1/4
Abnormality of the cerebral white matter 25.0% 1/4
Facial abnormalities    
Abnormality of the ear 25.0% 1/4
Bilateral external ear deformity 25.0% 1/4
Abnormality of the eye 50.0% 2/4
Downslanted palpebral fissures 25.0% 1/4
Hypertelorism 25.0% 1/4
Abnormality of the mouth 50.0% 2/4
Abnormality of mouth size 25.0% 1/4
High palate 25.0% 1/4
Visual and hearing impairments    
Abnormal hearing 33.3% 1/3
Acute otitis media 33.3% 1/3
Abnormal vision 33.3% 1/3
Myopia 33.3% 1/3
Gastrointestinal    
Gastrointestinal abnormalities 25.0% 1/4
Chronic constipation 25.0% 1/4
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 25.0% 1/4
Hypertrichosis 25.0% 1/4