RNASET2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 57.1% | 4/7 |
| Female | 42.9% | 3/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| 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 | 14.3% | 1/7 |
| < P3 : Microcephaly | 14.3% | 1/7 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 7/7 |
| Spastic tetraparesis | 100.0% | 7/7 |
| Seizure | 71.4% | 5/7 |
| Dystonia | 14.3% | 1/7 |
| Brain abnormality | 100.0% | 7/7 |
| Intracranial cystic lesion | 100.0% | 7/7 |
| Leukodystrophy | 100.0% | 7/7 |
| Brain atrophy | 71.4% | 5/7 |
| Cavum septum pellucidum | 57.1% | 4/7 |
| Cerebral calcification | 42.9% | 3/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 28.6% | 2/7 |
| Elevated CSF neopterin level | 28.6% | 2/7 |