SMG9
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 2/3 |
| Female | 33.3% | 1/3 |
| Indifferent | 0% | 0/3 |
| Unknown | 0% | 0/3 |
| General | ||
| Birth Length abnormalities | 0% | 0/0 |
| Birth Weight abnormalities | 0% | 0/0 |
| Birth Head circumference abnormalities | 0% | 0/0 |
| Current Height abnormalities | 0% | 0/0 |
| Current Weight abnormalities | 0% | 0/0 |
| Current Head circumference abnormalities | 0% | 0/0 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 3/3 |
| Dandy-Walker malformation | 66.7% | 2/3 |
| Abnormal myelination | 33.3% | 1/3 |
| Agenesis of corpus callosum | 33.3% | 1/3 |
| Brain atrophy | 33.3% | 1/3 |
| Brisk reflexes | 33.3% | 1/3 |
| Cerebellar vermis hypoplasia | 33.3% | 1/3 |
| Limb hypertonia | 33.3% | 1/3 |
| Muscular hypotonia of the trunk | 33.3% | 1/3 |
| Brain abnormality | 66.7% | 2/3 |
| Dandy-Walker malformation | 66.7% | 2/3 |
| Abnormal myelination | 33.3% | 1/3 |
| Agenesis of corpus callosum | 33.3% | 1/3 |
| Brain atrophy | 33.3% | 1/3 |
| Cerebellar vermis hypoplasia | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 2/2 |
| Attached earlobe | 50.0% | 1/2 |
| Low-set ears | 50.0% | 1/2 |
| Posteriorly rotated ears | 50.0% | 1/2 |
| Abnormality of the eye | 100.0% | 2/2 |
| Hypertelorism | 50.0% | 1/2 |
| Microphthalmia | 50.0% | 1/2 |
| Abnormality of the nose | 100.0% | 2/2 |
| Anteverted nares | 50.0% | 1/2 |
| Depressed nasal bridge | 50.0% | 1/2 |
| Wide nasal bridge | 50.0% | 1/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| Everted lower lip vermilion | 50.0% | 1/2 |
| High palate | 50.0% | 1/2 |
| Unilateral cleft lip | 50.0% | 1/2 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 1/1 |
| Blurred vision | 100.0% | 1/1 |
| Heart | ||
| Abnormality of the heart | 100.0% | 3/3 |
| Ventricular septal defect | 66.7% | 2/3 |
| Hypoplastic tricuspid valve | 33.3% | 1/3 |
| Interrupted aortic arch | 33.3% | 1/3 |
| Muscular ventricular septal defect | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 2/2 |
| Camptodactyly | 50.0% | 1/2 |
| Hand clenching | 50.0% | 1/2 |
| 2-3 toe syndactyly | 50.0% | 1/2 |