ASXL2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 1/1 |
| Female | 0% | 0/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| General | ||
| Birth Length abnormalities | 100.0% | 1/1 |
| > P98 : Birth length greater than 97th percentile | 100.0% | 1/1 |
| Birth Weight abnormalities | 100.0% | 1/1 |
| > P98 : Large for gestational age | 100.0% | 1/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 100.0% | 1/1 |
| > P98 : Tall stature | 100.0% | 1/1 |
| Current Weight abnormalities | 100.0% | 1/1 |
| > P98 : Increased body weight | 100.0% | 1/1 |
| Current Head circumference abnormalities | 100.0% | 1/1 |
| > P98 : Macrocephaly | 100.0% | 1/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Seizures | 100.0% | 1/1 |
| Behavioral problems | 100.0% | 1/1 |
| Aggressive behavior | 100.0% | 1/1 |
| Short attention span | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Cerebral white matter atrophy | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 1/1 |
| Abnormality of corneal shape | 100.0% | 1/1 |
| Proptosis | 100.0% | 1/1 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Patent foramen ovale | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Advanced ossification of carpal bones | 100.0% | 1/1 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Nevus flammeus of the forehead | 100.0% | 1/1 |