Patient Overview : 10

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 10.0% 1/10
Female 90.0% 9/10
Indifferent 0% 0/10
Unknown 0% 0/10
General    
Birth Length abnormalities 0% 0/10
Birth Weight abnormalities 0% 0/10
Birth Head circumference abnormalities 0% 0/10
Current Height abnormalities 0% 0/10
Current Weight abnormalities 0% 0/10
Current Head circumference abnormalities 0% 0/10
Neurology    
Neurological abnormalities 80.0% 8/10
Areflexia of lower limbs 80.0% 8/10
Areflexia of upper limbs 50.0% 5/10
Myalgia 10.0% 1/10
Sensory ataxia 10.0% 1/10
Skeletal myopathy 10.0% 1/10
Behavioral problems 70.0% 7/10
Anxiety 30.0% 3/10
Depression 30.0% 3/10
Abnormal fear/anxiety-related behavior 10.0% 1/10
Brain abnormality 10.0% 1/10
Abnormality of the cerebral vasculature 10.0% 1/10
Facial abnormalities    
Abnormality of the eye 60.0% 6/10
Myopia 50.0% 5/10
Abnormality of the vitreous humor 10.0% 1/10
Visual and hearing impairments    
Abnormal hearing 30.0% 3/10
Bilateral sensorineural hearing impairment 20.0% 2/10
Hearing abnormality 10.0% 1/10
Abnormal vision 100.0% 10/10
Abnormality of the vitreous humor 70.0% 7/10
Myopia 30.0% 3/10
Posterior vitreous detachment 20.0% 2/10
Severe Myopia 20.0% 2/10
Heart    
Abnormality of the heart 10.0% 1/10
Hypertension 10.0% 1/10
Gastrointestinal    
Gastrointestinal abnormalities 90.0% 9/10
Malabsorption 90.0% 9/10
Nausea 10.0% 1/10
Skeleton    
Skeletal abnormalities 100.0% 10/10
Joint laxity 60.0% 6/10
Osteoarthritis 40.0% 4/10
Abnormality of joint mobility 20.0% 2/10
Generalized osteoporosis 20.0% 2/10
Abnormality of hand joint mobility 10.0% 1/10
Generalized joint laxity 10.0% 1/10
Increased laxity of fingers 10.0% 1/10
Ligamentous laxity 10.0% 1/10
Localized osteoporosis 10.0% 1/10
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 10/10
Ligamentous laxity 60.0% 6/10
Atypical scarring of skin 20.0% 2/10
Generalized joint laxity 10.0% 1/10
Increased laxity of fingers 10.0% 1/10
Joint laxity 10.0% 1/10
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 10.0% 1/10
Abnormality of the thyroid gland 10.0% 1/10