| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/3 |
| Female | 100.0% | 3/3 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 0% | 0/2 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 66.7% | 2/3 |
| < P3 : Short stature | 66.7% | 2/3 |
| Current Weight abnormalities | 66.7% | 2/3 |
| < P3 : Decreased body weight | 66.7% | 2/3 |
| Current Head circumference abnormalities | 100.0% | 3/3 |
| < P3 : Microcephaly | 100.0% | 3/3 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Appendicular hypotonia | 50.0% | 1/2 |
| Central hypotonia | 50.0% | 1/2 |
| Impaired social interactions | 50.0% | 1/2 |
| Seizures | 50.0% | 1/2 |
| Brain abnormality | 100.0% | 3/3 |
| Arachnoid cyst | 66.7% | 2/3 |
| Abnormality of the globus pallidus | 33.3% | 1/3 |
| Abnormality of the dentate nucleus | 33.3% | 1/3 |
| Brain atrophy | 33.3% | 1/3 |
| Dysplastic corpus callosum | 33.3% | 1/3 |
| Enlarged cisterna magna | 33.3% | 1/3 |
| Hypoplasia of the frontal lobes | 33.3% | 1/3 |
| Ventriculomegaly | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 2/2 |
| Strabismus | 100.0% | 2/2 |
| Abnormality of the sclera | 50.0% | 1/2 |
| Mongolian blue spot | 50.0% | 1/2 |