CERT1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/1 |
| Female | 100.0% | 1/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 0% | 0/1 |
| 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 |
| Status epilepticus | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Delayed CNS myelination | 100.0% | 1/1 |
| Hypoplasia of the corpus callosum | 100.0% | 1/1 |
| Leukodystrophy | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 1/1 |
| Hypotelorism | 100.0% | 1/1 |
| Long palpebral fissure | 100.0% | 1/1 |
| Thick eyebrow | 100.0% | 1/1 |
| Abnormality of the nose | 100.0% | 1/1 |
| Bulbous nose | 100.0% | 1/1 |
| Short philtrum | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Scoliosis | 100.0% | 1/1 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Hypertrichosis | 100.0% | 1/1 |