SNX14
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/1 |
| Female | 100.0% | 1/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 100.0% | 1/1 |
| < P3 : Short stature | 100.0% | 1/1 |
| Current Weight abnormalities | 0% | 0/1 |
| Current Head circumference abnormalities | 0% | 0/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Muscular hypotonia | 100.0% | 1/1 |
| Progressive cerebellar ataxia | 100.0% | 1/1 |
| Seizures | 100.0% | 1/1 |
| Behavioral problems | 100.0% | 1/1 |
| Hyperactivity | 100.0% | 1/1 |
| Self-biting | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Cerebellar atrophy | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 1/1 |
| Prominent epicanthal folds | 100.0% | 1/1 |
| Telecanthus | 100.0% | 1/1 |
| Upslanted palpebral fissure | 100.0% | 1/1 |
| Abnormality of the nose | 100.0% | 1/1 |
| Bulbous nose | 100.0% | 1/1 |
| Underdeveloped nasal alae | 100.0% | 1/1 |
| Abnormality of the mouth | 100.0% | 1/1 |
| Everted lower lip vermilion | 100.0% | 1/1 |
| Thick lower lip vermilion | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Clinodactyly of the 5th finger | 100.0% | 1/1 |
| Clinodactyly of the 5th toe | 100.0% | 1/1 |