Patient Overview : 3

Frequency of all clinical findings

Percentage Cases
Gender    
Male 33.3% 1/3
Female 66.7% 2/3
General    
Birth Length abnormalities 100.0% 3/3
> P98 : Birth length greater than 97th percentile 100.0% 3/3
Birth Weight abnormalities 0% 0/3
Birth Head circumference abnormalities 0% 0/3
Current Height abnormalities 0% 0/3
Current Weight abnormalities 33.3% 1/3
< P3 : Decreased body weight 33.3% 1/3
Current Head circumference abnormalities 0% 0/3
Neurology    
Neurological abnormalities 100.0% 3/3
Insomnia 66.7% 2/3
Muscular hypotonia of the trunk 66.7% 2/3
Muscular hypotonia 66.7% 2/3
Dystonia 33.3% 1/3
Involuntary movements 33.3% 1/3
Behavioral problems 66.7% 2/3
Attention deficit hyperactivity disorder 33.3% 1/3
Autism 33.3% 1/3
Facial abnormalities    
Abnormality of the eye 33.3% 1/3
Abnormality of the cornea 33.3% 1/3
Microphthalmia 33.3% 1/3
Sclerocornea 33.3% 1/3
Visual and hearing impairments    
Abnormal hearing 100.0% 3/3
Childhood onset sensorineural hearing impairment 100.0% 3/3
Abnormal vision 33.3% 1/3
Keratoconus 33.3% 1/3
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 3/3
Constipation 100.0% 3/3
Feeding difficulties 100.0% 3/3
Gastroesophageal reflux 100.0% 3/3
Skeleton    
Skeletal abnormalities 66.7% 2/3
Asymmetry of the thorax 33.3% 1/3
Knee flexion contracture 33.3% 1/3
Thoracic scoliosis 33.3% 1/3
10 pairs of ribs 33.3% 1/3
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 33.3% 1/3
Sepsis 33.3% 1/3