DNMT3A gain of function

Graph and Chart

Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 2/3
Female 33.3% 1/3
Neurology    
Neurological abnormalities 100.0% 3/3
Severe global developmental delay 66.7% 2/3
Absent speech 33.3% 1/3
Moderate global developmental delay 33.3% 1/3
Facial abnormalities    
Abnormality of the eye 33.3% 1/3
Strabismus 33.3% 1/3
Epicanthus 33.3% 1/3
Visual and hearing impairments    
Abnormal vision 100.0% 1/1
Strabismus 100.0% 1/1
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 1/1
Constipation 100.0% 1/1
Urogenital    
Abnormality of the urogenital system 100.0% 1/1
Macroorchidism 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 3/3
11 pairs of ribs 33.3% 1/3
Delayed skeletal maturation 33.3% 1/3
Broad metacarpals 66.7% 2/3
Short metacarpal 66.7% 2/3
Short phalanx of finger 33.3% 1/3
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 66.7% 2/3
Sparse hair 66.7% 2/3