C12orf57

Graph and Chart

Patient Overview : 6

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 4/6
Female 33.3% 2/6
Indifferent 0% 0/6
Unknown 0% 0/6
General    
Birth Length abnormalities 0% 0/6
Birth Weight abnormalities 0% 0/6
Birth Head circumference abnormalities 0% 0/6
Current Height abnormalities 0% 0/6
Current Weight abnormalities 0% 0/6
Current Head circumference abnormalities 0% 0/6
Neurology    
Neurological abnormalities 100.0% 6/6
Seizures 83.3% 5/6
Hypertonia 50.0% 3/6
Focal seizures 16.7% 1/6
Motor delay 16.7% 1/6
Behavioral problems 16.7% 1/6
Pica 16.7% 1/6
Self-mutilation 16.7% 1/6
Brain abnormality 50.0% 3/6
Agenesis of corpus callosum 33.3% 2/6
Thick corpus callosum 16.7% 1/6
Facial abnormalities    
Abnormality of the eye 66.7% 4/6
Bilateral microphthalmos 50.0% 3/6
Chorioretinal coloboma 50.0% 3/6
Iris coloboma 33.3% 2/6
Epicanthus inversus 16.7% 1/6
Hypertelorism 16.7% 1/6
Strabismus 16.7% 1/6
Abnormality of the mouth 16.7% 1/6
Abnormality of mouth shape 16.7% 1/6
Downturned corners of mouth 16.7% 1/6
Visual and hearing impairments    
Abnormal hearing 16.7% 1/6
Bilateral sensorineural hearing impairment 16.7% 1/6
Abnormal vision 33.3% 1/3
Abnormality of vision 33.3% 1/3
Heart    
Abnormality of the heart 16.7% 1/6
Abnormality of the atrial septum 16.7% 1/6
Bicuspid aortic valve 16.7% 1/6
Gastrointestinal    
Gastrointestinal abnormalities 16.7% 1/6
Esophageal atresia 16.7% 1/6