ALX1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 33.3% | 2/6 |
| Female | 66.7% | 4/6 |
| 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 | 16.7% | 1/6 |
| Delayed myelination | 16.7% | 1/6 |
| Brain abnormality | 50.0% | 1/2 |
| Abnormality of the cerebellar vermis | 50.0% | 1/2 |
| Abnormality of the corpus callosum | 50.0% | 1/2 |
| Delayed myelination | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 2/6 |
| Low-set ears | 33.3% | 2/6 |
| Abnormality of the eye | 100.0% | 6/6 |
| Bilateral ptosis | 66.7% | 4/6 |
| Blepharophimosis | 66.7% | 4/6 |
| Upslanted palpebral fissure | 66.7% | 4/6 |
| Absent eyebrow | 33.3% | 2/6 |
| Bilateral microphthalmos | 33.3% | 2/6 |
| Hypertelorism | 33.3% | 2/6 |
| Sparse eyelashes | 33.3% | 2/6 |
| Upper eyelid coloboma | 33.3% | 2/6 |
| Abnormality of the nose | 100.0% | 6/6 |
| Wide nasal base | 83.3% | 5/6 |
| Wide nasal bridge | 83.3% | 5/6 |
| Broad columella | 66.7% | 4/6 |
| Underdeveloped nasal alae | 33.3% | 2/6 |
| Prominent glabella | 16.7% | 1/6 |
| Abnormality of the mouth | 100.0% | 6/6 |
| Mandibular prognathia | 66.7% | 4/6 |
| Smooth philtrum | 66.7% | 4/6 |
| Bilateral cleft lip | 33.3% | 2/6 |
| Cleft palate | 33.3% | 2/6 |
| Prominent glabella | 16.7% | 1/6 |
| Visual and hearing impairments | ||
| Abnormal vision | 20.0% | 1/5 |
| Aplasia/Hypoplasia of the optic nerve | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 2/2 |
| Abnormality of the frontal bone | 100.0% | 2/2 |
| Brachycephaly | 50.0% | 1/2 |
| Caudal appendage | 50.0% | 1/2 |
| Posterior plagiocephaly | 50.0% | 1/2 |