| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/1 |
| Female | 100.0% | 1/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 100.0% | 1/1 |
| < P3 : Short stature | 100.0% | 1/1 |
| Current Weight abnormalities | 0% | 0/1 |
| Current Head circumference abnormalities | 0% | 0/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Generalized hypotonia | 100.0% | 1/1 |
| Global developmental delay | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Delayed myelination | 100.0% | 1/1 |
| Extra-axial cerebrospinal fluid accumulation | 100.0% | 1/1 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 1/1 |
| Abnormality of eye movement | 100.0% | 1/1 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Sparse scalp hair | 100.0% | 1/1 |