KIAA1217
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 70.0% | 7/10 |
| Female | 20.0% | 2/10 |
| Indifferent | 0% | 0/10 |
| Unknown | 10.0% | 1/10 |
| General | ||
| Birth Length abnormalities | 0% | 0/10 |
| Birth Weight abnormalities | 0% | 0/10 |
| Birth Head circumference abnormalities | 0% | 0/10 |
| Current Height abnormalities | 0% | 0/10 |
| Current Weight abnormalities | 0% | 0/10 |
| Current Head circumference abnormalities | 10.0% | 1/10 |
| > P98 : Macrocephaly | 10.0% | 1/10 |
| Neurology | ||
| Neurological abnormalities | 40.0% | 4/10 |
| Tethered cord | 20.0% | 2/10 |
| Basilar invagination | 10.0% | 1/10 |
| Chiari malformation | 10.0% | 1/10 |
| Hydrocephalus | 10.0% | 1/10 |
| Heart | ||
| Abnormality of the heart | 40.0% | 4/10 |
| Atrial septal defect | 20.0% | 2/10 |
| Ventricular septal defect | 20.0% | 2/10 |
| Dextrocardia | 10.0% | 1/10 |
| Myocarditis | 10.0% | 1/10 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 10/10 |
| Fused cervical vertebrae | 100.0% | 10/10 |
| Abnormal vertebral segmentation and fusion | 50.0% | 5/10 |
| Fused thoracic vertebrae | 20.0% | 2/10 |
| Abnormal vertebral morphology | 10.0% | 1/10 |
| Lower limb asymmetry | 10.0% | 1/10 |
| Lumbar spondylosis | 10.0% | 1/10 |
| Short neck | 10.0% | 1/10 |
| Sprengel anomaly | 10.0% | 1/10 |