Patient Overview : 2

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 2/2
Female 0% 0/2
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 50.0% 1/2
< P3 : Short stature 50.0% 1/2
Current Weight abnormalities 0% 0/2
Current Head circumference abnormalities 0% 0/2
Neurology    
Neurological abnormalities 50.0% 1/2
Central hypotonia 50.0% 1/2
Delayed gross motor development 50.0% 1/2
Language impairment 50.0% 1/2
Neurodevelopmental delay 50.0% 1/2
Behavioral problems 50.0% 1/2
Impulsivity 50.0% 1/2
Short attention span 50.0% 1/2
Brain abnormality 100.0% 1/1
Arachnoid cyst 100.0% 1/1
Facial abnormalities    
Abnormality of the ear 100.0% 2/2
Large earlobe 50.0% 1/2
Overfolding of the superior helices 50.0% 1/2
Abnormality of the eye 100.0% 2/2
Almond-shaped palpebral fissure 50.0% 1/2
Deeply set eye 50.0% 1/2
Downslanted palpebral fissures 50.0% 1/2
Hypertelorism 50.0% 1/2
Sparse lateral eyebrow 50.0% 1/2
Unilateral strabismus 50.0% 1/2
Upslanted palpebral fissure 50.0% 1/2
Abnormality of the nose 100.0% 2/2
Anteverted nares 50.0% 1/2
Depressed nasal bridge 50.0% 1/2
Abnormality of the mouth 100.0% 2/2
Long philtrum 50.0% 1/2
Narrow mouth 50.0% 1/2
Smooth philtrum 50.0% 1/2
Tented philtrum 50.0% 1/2
Tented upper lip vermilion 50.0% 1/2
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 1/2
Neonatal cholestatic liver disease 50.0% 1/2