| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 1/1 |
| Female | 0% | 0/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 100.0% | 1/1 |
| < P3 : Small for gestational age | 100.0% | 1/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 0% | 0/1 |
| Current Weight abnormalities | 100.0% | 1/1 |
| < P3 : Decreased body weight | 100.0% | 1/1 |
| Current Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Microcephaly | 100.0% | 1/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Muscular hypotonia of the trunk | 100.0% | 1/1 |
| Seizures | 100.0% | 1/1 |
| Severe global developmental delay | 100.0% | 1/1 |
| Spasticity | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Abnormality of the corpus callosum | 100.0% | 1/1 |
| Atrophy/Degeneration affecting the brainstem | 100.0% | 1/1 |
| Cerebral atrophy | 100.0% | 1/1 |
| Cerebellar atrophy | 100.0% | 1/1 |
| CNS hypomyelination | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Dolichocephaly | 100.0% | 1/1 |
| Limb joint contracture | 100.0% | 1/1 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 100.0% | 1/1 |
| Decreased sialylation of O-linked protein glycosylation | 100.0% | 1/1 |
| Decreased sialylation of N-linked protein glycosylation | 100.0% | 1/1 |