EIF2AK2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 1/1 |
| Female | 0% | 0/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| 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 | 0% | 0/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Chorea | 100.0% | 1/1 |
| Dysarthria | 100.0% | 1/1 |
| Dystonia | 100.0% | 1/1 |
| Echolalia | 100.0% | 1/1 |
| Hemiballismus | 100.0% | 1/1 |
| Parkinsonism | 100.0% | 1/1 |
| Tremor | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Cerebral cortical atrophy | 100.0% | 1/1 |
| Hyperintensity of MRI T2 signal of the spinal cord | 100.0% | 1/1 |
| Progressive ventriculomegaly | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Bowel incontinence | 100.0% | 1/1 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 1/1 |
| Urinary incontinence | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Scoliosis | 100.0% | 1/1 |