SMARCC2

Graph and Chart

Patient Overview : 15

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 80.0% 12/15
Female 20.0% 3/15
Indifferent 0% 0/15
Unknown 0% 0/15
General    
Birth Length abnormalities 0% 0/15
Birth Weight abnormalities 0% 0/15
Birth Head circumference abnormalities 0% 0/15
Current Height abnormalities 0% 0/15
Current Weight abnormalities 0% 0/15
Current Head circumference abnormalities 0% 0/15
Neurology    
Neurological abnormalities 100.0% 15/15
Muscular hypotonia 80.0% 12/15
Seizures 26.7% 4/15
Spasticity 20.0% 3/15
Abnormality of movement 13.3% 2/15
Behavioral problems 66.7% 10/15
Behavioral abnormality 60.0% 9/15
Brain abnormality 50.0% 6/12
Abnormality of the corpus callosum 25.0% 3/12
Generalized cerebral atrophy/hypoplasia 16.7% 2/12
Abnormality of the globus pallidus 8.3% 1/12
Abnormality of the periventricular white matter 8.3% 1/12
CNS hypomyelination 8.3% 1/12
Focal white matter lesions 8.3% 1/12
Perivascular spaces 8.3% 1/12
Facial abnormalities    
Abnormality of the eye 33.3% 5/15
Ptosis 33.3% 5/15
Abnormality of the nose 40.0% 6/15
Anteverted nares 40.0% 6/15
Abnormality of the mouth 73.3% 11/15
Thin upper lip vermilion 40.0% 6/15
Thick lower lip vermilion 33.3% 5/15
Abnormality of the palate 20.0% 3/15
Visual and hearing impairments    
Abnormal vision 6.7% 1/15
Abnormality of vision 6.7% 1/15
Heart    
Abnormality of the heart 18.2% 2/11
Abnormality of the coronary arteries 9.1% 1/11
Aortic aneurysm 9.1% 1/11
Urogenital    
Abnormality of the urogenital system 15.4% 2/13
Cryptorchidism 15.4% 2/13
Skeleton    
Skeletal abnormalities 53.3% 8/15
Scoliosis 26.7% 4/15
Abnormality of the 5th finger 20.0% 3/15
Abnormality of the 5th toe 13.3% 2/15
Camptodactyly of finger 6.7% 1/15
Camptodactyly of toe 6.7% 1/15
Kyphosis 6.7% 1/15
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 73.3% 11/15
Hypertrichosis 40.0% 6/15
Thick eyebrow 40.0% 6/15
Long eyelashes 33.3% 5/15
Sparse scalp hair 26.7% 4/15
Eczema 20.0% 3/15
Cafe-au-lait spot 6.7% 1/15
Hypomelanotic macule 6.7% 1/15
Hypopigmentation of hair 6.7% 1/15
Irregular hyperpigmentation of back 6.7% 1/15
Scleroderma 6.7% 1/15
Vitiligo 6.7% 1/15