Patient Overview : 2

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 1/2
Female 50.0% 1/2
General    
Birth Length abnormalities 0% 0/2
Birth Weight abnormalities 50.0% 1/2
> P98 : Large for gestational age 50.0% 1/2
Birth Head circumference abnormalities 50.0% 1/2
> P98 : Macrocephaly at birth 50.0% 1/2
Current Height abnormalities 0% 0/2
Current Weight abnormalities 0% 0/2
Current Head circumference abnormalities 0% 0/2
Neurology    
Neurological abnormalities 100.0% 2/2
Intellectual disability, severe 100.0% 2/2
Generalized hypotonia 50.0% 1/2
Brain abnormality 100.0% 1/1
Thick corpus callosum 100.0% 1/1
Facial abnormalities    
Abnormality of the ear 100.0% 2/2
Low-set, posteriorly rotated ears 100.0% 2/2
Abnormality of the eye 100.0% 2/2
Hypertelorism 100.0% 2/2
Proptosis 50.0% 1/2
Upslanted palpebral fissure 50.0% 1/2
Abnormality of the mouth 100.0% 2/2
High palate 50.0% 1/2
Open mouth 50.0% 1/2
Urogenital    
Abnormality of the urogenital system 50.0% 1/2
Micropenis 50.0% 1/2
Skeleton    
Skeletal abnormalities 100.0% 2/2
Kyphosis 50.0% 1/2
Long fingers 50.0% 1/2