Patient Overview : 2

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 1/2
Female 50.0% 1/2
Indifferent 0% 0/2
Unknown 0% 0/2
General    
Birth Length abnormalities 0% 0/2
Birth Weight abnormalities 0% 0/2
Birth Head circumference abnormalities 0% 0/2
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
Delayed gross motor development 50.0% 1/2
Expressive language delay 50.0% 1/2
Generalized hypotonia 50.0% 1/2
Intellectual disability, profound 50.0% 1/2
Intellectual disability, moderate 50.0% 1/2
Seizures 50.0% 1/2
Behavioral problems 50.0% 1/2
Autistic behavior 50.0% 1/2
Obsessive-compulsive trait 50.0% 1/2
Stereotypic behavior 50.0% 1/2
Facial abnormalities    
Abnormality of the eye 50.0% 1/2
Broad eyebrow 50.0% 1/2
Long eyelashes 50.0% 1/2
Synophrys 50.0% 1/2
Abnormality of the mouth 50.0% 1/2
High palate 50.0% 1/2
Misalignment of teeth 50.0% 1/2
Narrow palate 50.0% 1/2
Skeleton    
Skeletal abnormalities 50.0% 1/2
Tall stature 50.0% 1/2
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 50.0% 1/2
Decreased circulating cortisol level 50.0% 1/2