Patient Overview : 1

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 1/1
Female 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 100.0% 1/1
> P98 : Macrocephaly 100.0% 1/1
Neurology    
Neurological abnormalities 100.0% 1/1
Central hypotonia 100.0% 1/1
Delayed speech and language development 100.0% 1/1
Generalized hypotonia 100.0% 1/1
Behavioral problems 100.0% 1/1
Abnormal aggressive, impulsive or violent behavior 100.0% 1/1
Hyperactivity 100.0% 1/1
Obsessive-compulsive trait 100.0% 1/1
Facial abnormalities    
Abnormality of the nose 100.0% 1/1
Bulbous nose 100.0% 1/1
Wide nasal bridge 100.0% 1/1
Abnormality of the mouth 100.0% 1/1
Open mouth 100.0% 1/1
Tented upper lip vermilion 100.0% 1/1
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 1/1
Polyphagia 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 1/1
Pes planus 100.0% 1/1