DNMT3A gain of function
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 2/3 |
| Female | 33.3% | 1/3 |
| Indifferent | 0% | 0/3 |
| Unknown | 0% | 0/3 |
| 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 |
| Epicanthus | 33.3% | 1/3 |
| Strabismus | 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 |
| Broad metacarpals | 66.7% | 2/3 |
| Short metacarpal | 66.7% | 2/3 |
| Delayed skeletal maturation | 33.3% | 1/3 |
| Short phalanx of finger | 33.3% | 1/3 |
| 11 pairs of ribs | 33.3% | 1/3 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 66.7% | 2/3 |
| Sparse hair | 66.7% | 2/3 |