Patient Overview : 9

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 55.6% 5/9
Female 44.4% 4/9
Neurology    
Neurological abnormalities 88.9% 8/9
Lower limb spasticity 55.6% 5/9
Dystonia 44.4% 4/9
Infantile axial hypotonia 22.2% 2/9
Muscular hypotonia of the trunk 22.2% 2/9
Spasticity 22.2% 2/9
Bradykinesia 11.1% 1/9
Central hypotonia 11.1% 1/9
Limb dystonia 11.1% 1/9
Facial abnormalities    
Abnormality of the eye 80.0% 4/5
Strabismus 60.0% 3/5
Exudative retinopathy 40.0% 2/5
Thin upper lip vermilion 20.0% 1/5
Unilateral strabismus 20.0% 1/5
Abnormality of the nose 71.4% 5/7
Underdeveloped nasal alae 71.4% 5/7
Bulbous nose 42.9% 3/7
Abnormality of the mouth 62.5% 5/8
Thin upper lip vermilion 62.5% 5/8
Long philtrum 37.5% 3/8
Smooth philtrum 25.0% 2/8
Visual and hearing impairments    
Abnormal hearing 11.1% 1/9
Unilateral deafness 11.1% 1/9
Abnormal vision 83.3% 5/6
Strabismus 50.0% 3/6
Exudative retinopathy 33.3% 2/6
Astigmatism 16.7% 1/6
Cataract 16.7% 1/6
Hypermetropia 16.7% 1/6
Unilateral strabismus 16.7% 1/6
Skeleton    
Skeletal abnormalities 11.1% 1/9
Craniosynostosis 11.1% 1/9
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 50.0% 4/8
Sparse scalp hair 25.0% 2/8
Fair hair 12.5% 1/8
Thick eyebrow 12.5% 1/8
Widow's peak 12.5% 1/8