KCNT2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 20.0% | 1/5 |
| Female | 80.0% | 4/5 |
| Indifferent | 0% | 0/5 |
| Unknown | 0% | 0/5 |
| General | ||
| Birth Length abnormalities | 0% | 0/5 |
| Birth Weight abnormalities | 0% | 0/5 |
| Birth Head circumference abnormalities | 0% | 0/5 |
| Current Height abnormalities | 0% | 0/5 |
| Current Weight abnormalities | 0% | 0/5 |
| Current Head circumference abnormalities | 0% | 0/5 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Epileptic encephalopathy | 80.0% | 4/5 |
| Absence seizures | 20.0% | 1/5 |
| Central hypotonia | 20.0% | 1/5 |
| Epileptic spasms | 20.0% | 1/5 |
| Behavioral problems | 33.3% | 1/3 |
| Pain insensitivity | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the eye | 50.0% | 2/4 |
| Long eyelashes | 50.0% | 2/4 |
| Abnormality of the mouth | 50.0% | 2/4 |
| Smooth philtrum | 50.0% | 2/4 |
| Short philtrum | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 2/4 |
| Cortical visual impairment | 50.0% | 2/4 |