OXR1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 14.3% | 1/7 |
| Female | 85.7% | 6/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 0% | 0/7 |
| Birth Weight abnormalities | 0% | 0/7 |
| Birth Head circumference abnormalities | 0% | 0/7 |
| Current Height abnormalities | 14.3% | 1/7 |
| < P3 : Short stature | 14.3% | 1/7 |
| Current Weight abnormalities | 0% | 0/7 |
| Current Head circumference abnormalities | 14.3% | 1/7 |
| > P98 : Macrocephaly | 14.3% | 1/7 |
| Neurology | ||
| Neurological abnormalities | 85.7% | 6/7 |
| EEG abnormality | 14.3% | 1/7 |
| Encephalopathy | 14.3% | 1/7 |
| Hyporeflexia | 14.3% | 1/7 |
| Behavioral problems | 66.7% | 2/3 |
| Pica | 33.3% | 1/3 |
| Self-injurious behavior | 33.3% | 1/3 |
| Stereotypic behavior | 33.3% | 1/3 |
| Brain abnormality | 83.3% | 5/6 |
| Delayed myelination | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the eye | 50.0% | 1/2 |
| Hyperopic astigmatism | 50.0% | 1/2 |
| Nasolacrimal duct obstruction | 50.0% | 1/2 |
| Visual and hearing impairments | ||
| Abnormal hearing | 28.6% | 2/7 |
| Bilateral sensorineural hearing impairment | 14.3% | 1/7 |
| Severe sensorineural hearing impairment | 14.3% | 1/7 |
| Abnormal vision | 28.6% | 2/7 |
| Hyperopic astigmatism | 14.3% | 1/7 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Hyporeflexia | 100.0% | 1/1 |