C12orf57
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 4/6 |
| Female | 33.3% | 2/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/6 |
| Birth Weight abnormalities | 0% | 0/6 |
| Birth Head circumference abnormalities | 0% | 0/6 |
| Current Height abnormalities | 0% | 0/6 |
| Current Weight abnormalities | 0% | 0/6 |
| Current Head circumference abnormalities | 0% | 0/6 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 6/6 |
| Seizures | 83.3% | 5/6 |
| Hypertonia | 50.0% | 3/6 |
| Focal seizures | 16.7% | 1/6 |
| Motor delay | 16.7% | 1/6 |
| Behavioral problems | 16.7% | 1/6 |
| Pica | 16.7% | 1/6 |
| Self-mutilation | 16.7% | 1/6 |
| Brain abnormality | 50.0% | 3/6 |
| Agenesis of corpus callosum | 33.3% | 2/6 |
| Thick corpus callosum | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the eye | 66.7% | 4/6 |
| Bilateral microphthalmos | 50.0% | 3/6 |
| Chorioretinal coloboma | 50.0% | 3/6 |
| Iris coloboma | 33.3% | 2/6 |
| Epicanthus inversus | 16.7% | 1/6 |
| Hypertelorism | 16.7% | 1/6 |
| Strabismus | 16.7% | 1/6 |
| Abnormality of the mouth | 16.7% | 1/6 |
| Abnormality of mouth shape | 16.7% | 1/6 |
| Downturned corners of mouth | 16.7% | 1/6 |
| Visual and hearing impairments | ||
| Abnormal hearing | 16.7% | 1/6 |
| Bilateral sensorineural hearing impairment | 16.7% | 1/6 |
| Abnormal vision | 33.3% | 1/3 |
| Abnormality of vision | 33.3% | 1/3 |
| Heart | ||
| Abnormality of the heart | 16.7% | 1/6 |
| Abnormality of the atrial septum | 16.7% | 1/6 |
| Bicuspid aortic valve | 16.7% | 1/6 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 16.7% | 1/6 |
| Esophageal atresia | 16.7% | 1/6 |