| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 1/2 |
| Female | 50.0% | 1/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 0% | 0/2 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 0% | 0/2 |
| Current Weight abnormalities | 0% | 0/2 |
| Current Head circumference abnormalities | 0% | 0/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Areflexia | 100.0% | 2/2 |
| Developmental regression | 100.0% | 2/2 |
| Dystonia | 100.0% | 2/2 |
| Leukodystrophy | 100.0% | 2/2 |
| Muscular hypotonia of the trunk | 100.0% | 2/2 |
| Spasticity | 100.0% | 2/2 |
| Cerebral white matter atrophy | 50.0% | 1/2 |
| Neurogenic bladder | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 2/2 |
| Low-set ears | 100.0% | 2/2 |
| Abnormality of the eye | 100.0% | 2/2 |
| Optic disc pallor | 100.0% | 2/2 |
| Abnormality of the nose | 100.0% | 2/2 |
| Prominent nose | 100.0% | 2/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| Thick lower lip vermilion | 100.0% | 2/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 2/2 |
| Neurogenic bladder | 100.0% | 2/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 2/2 |
| Thick eyebrow | 100.0% | 2/2 |