DDX59
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 33.3% | 2/6 |
| Female | 66.7% | 4/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/0 |
| Birth Weight abnormalities | 0% | 0/0 |
| Birth Head circumference abnormalities | 0% | 0/0 |
| Current Height abnormalities | 0% | 0/0 |
| Current Weight abnormalities | 0% | 0/0 |
| Current Head circumference abnormalities | 0% | 0/0 |
| Neurology | ||
| Brain abnormality | 100.0% | 1/1 |
| Agenesis of corpus callosum | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the eye | 16.7% | 1/6 |
| Hypertelorism | 16.7% | 1/6 |
| Abnormality of the mouth | 100.0% | 6/6 |
| Lobulated tongue | 100.0% | 6/6 |
| Bifid uvula | 66.7% | 4/6 |
| Cleft palate | 33.3% | 2/6 |
| Heart | ||
| Abnormality of the heart | 100.0% | 2/2 |
| Tetralogy of Fallot | 50.0% | 1/2 |
| Ventricular septal defect | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Aganglionic megacolon | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 6/6 |
| Polydactyly | 100.0% | 6/6 |
| Scoliosis | 16.7% | 1/6 |