| Gender |
|
|
| Male |
33.3% |
2/6 |
| Female |
66.7% |
4/6 |
| Neurology |
|
|
| Neurological abnormalities |
16.7% |
1/6 |
| Delayed myelination |
16.7% |
1/6 |
| Brain abnormality |
50.0% |
1/2 |
| Abnormality of the corpus callosum |
50.0% |
1/2 |
| Abnormality of the cerebellar vermis |
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 |