| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 2/3 |
| Female | 33.3% | 1/3 |
| 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% | 3/3 |
| Central hypotonia | 33.3% | 1/3 |
| Complex febrile seizures | 33.3% | 1/3 |
| Developmental regression | 33.3% | 1/3 |
| Infantile spasms | 33.3% | 1/3 |
| Limb hypertonia | 33.3% | 1/3 |
| Progressive spastic quadriplegia | 33.3% | 1/3 |
| Seizures | 33.3% | 1/3 |
| Brain abnormality | 100.0% | 3/3 |
| Intracerebral periventricular calcifications | 66.7% | 2/3 |
| Abnormality of the cerebral white matter | 33.3% | 1/3 |
| Cerebral atrophy | 33.3% | 1/3 |
| Cerebellar atrophy | 33.3% | 1/3 |
| Hypoplasia of the corpus callosum | 33.3% | 1/3 |
| Visual and hearing impairments | ||
| Abnormal vision | 66.7% | 2/3 |
| Reduced visual acuity | 33.3% | 1/3 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 66.7% | 2/3 |
| Gastrostomy tube feeding in infancy | 33.3% | 1/3 |