Patient Overview : 2

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 1/2
Female 50.0% 1/2
Neurology    
Neurological abnormalities 100.0% 2/2
Global developmental delay 100.0% 2/2
Intellectual disability 50.0% 1/2
Behavioral problems 50.0% 1/2
Abnormal aggressive, impulsive or violent behavior 50.0% 1/2
Agitation 50.0% 1/2
Brain abnormality 50.0% 1/2
Asymmetric radial dysplasia 50.0% 1/2
Facial abnormalities    
Abnormality of the ear 50.0% 1/2
External ear malformation 50.0% 1/2
Profound hearing impairment 50.0% 1/2
Abnormality of the eye 50.0% 1/2
Anterior pyramidal cataract 50.0% 1/2
Congenital blindness 50.0% 1/2
Microphthalmia 50.0% 1/2
Peters anomaly 50.0% 1/2
Visual and hearing impairments    
Abnormal hearing 100.0% 2/2
Profound hearing impairment 50.0% 1/2
Severe hearing impairment 50.0% 1/2
Abnormal vision 100.0% 1/1
Congenital blindness 100.0% 1/1
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 2/2
Villous atrophy 100.0% 2/2
Cholestasis 50.0% 1/2
Chronic diarrhea 50.0% 1/2
Cow milk allergy 50.0% 1/2
Gastroesophageal reflux 50.0% 1/2
Hepatomegaly 50.0% 1/2
Intermittent diarrhea 50.0% 1/2
Pruritus 50.0% 1/2