PRDM16

Graph and Chart

Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 33.3% 1/3
Female 66.7% 2/3
Indifferent 0% 0/3
Unknown 0% 0/3
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 0% 0/1
Birth Head circumference abnormalities 0% 0/1
Current Height abnormalities 100.0% 1/1
< P3 : Short stature 100.0% 1/1
Current Weight abnormalities 100.0% 1/1
< P3 : Decreased body weight 100.0% 1/1
Current Head circumference abnormalities 100.0% 1/1
< P3 : Microcephaly 100.0% 1/1
Neurology    
Neurological abnormalities 33.3% 1/3
Bilateral convulsive seizures 33.3% 1/3
Muscular hypotonia 33.3% 1/3
Brain abnormality 33.3% 1/3
Abnormality of the corpus callosum 33.3% 1/3
Facial abnormalities    
Abnormality of the ear 33.3% 1/3
Abnormality of the pinna 33.3% 1/3
Abnormality of the eye 33.3% 1/3
Abnormal eye morphology 33.3% 1/3
Strabismus 33.3% 1/3
Visual and hearing impairments    
Abnormal hearing 33.3% 1/3
Childhood onset sensorineural hearing impairment 33.3% 1/3
Heart    
Abnormality of the heart 100.0% 3/3
Left ventricular noncompaction cardiomyopathy 100.0% 3/3
Ascending aortic dilation 33.3% 1/3
Pulmonary hypertension 33.3% 1/3
Secundum atrial septal defect 33.3% 1/3
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 33.3% 1/3
Atopic dermatitis 33.3% 1/3
Brittle scalp hair 33.3% 1/3