| 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 | 0% | 0/1 |
| Current Weight abnormalities | 0% | 0/1 |
| Current Head circumference abnormalities | 0% | 0/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Gait disturbance | 100.0% | 1/1 |
| Lagopthalmos | 100.0% | 1/1 |
| Behavioral problems | 100.0% | 1/1 |
| Autism | 100.0% | 1/1 |
| Impaired social interactions | 100.0% | 1/1 |
| Stereotypic behavior | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Abnormality of the cerebral white matter | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 1/1 |
| Abnormality of cochlea | 100.0% | 1/1 |
| Abnormality of the eye | 100.0% | 1/1 |
| Highly arched eyebrow | 100.0% | 1/1 |
| Long palpebral fissure | 100.0% | 1/1 |
| Visual and hearing impairments | ||
| Abnormal hearing | 100.0% | 1/1 |
| Abnormality of the internal auditory canal | 100.0% | 1/1 |
| Abnormality of the vestibulocochlear nerve | 100.0% | 1/1 |
| Hearing impairment | 100.0% | 1/1 |
| Hypoplasia of the cochlea | 100.0% | 1/1 |
| Abnormal vision | 100.0% | 1/1 |
| Corneal opacity | 100.0% | 1/1 |
| Keratoconjunctivitis sicca | 100.0% | 1/1 |