UNC80
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 3/6 |
| Female | 50.0% | 3/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/4 |
| Birth Weight abnormalities | 0% | 0/4 |
| Birth Head circumference abnormalities | 0% | 0/4 |
| Current Height abnormalities | 83.3% | 5/6 |
| < P3 : Short stature | 83.3% | 5/6 |
| Current Weight abnormalities | 83.3% | 5/6 |
| < P3 : Decreased body weight | 83.3% | 5/6 |
| Current Head circumference abnormalities | 83.3% | 5/6 |
| < P3 : Microcephaly | 83.3% | 5/6 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Central hypotonia | 100.0% | 5/5 |
| Generalized hypotonia | 20.0% | 1/5 |
| Limb hypertonia | 20.0% | 1/5 |
| Profound static encephalopathy | 20.0% | 1/5 |
| Progressive spasticity | 20.0% | 1/5 |
| Brain abnormality | 100.0% | 4/4 |
| EEG with generalized slow activity | 75.0% | 3/4 |
| Global brain atrophy | 25.0% | 1/4 |
| Reduced brain N-acetyl aspartate level by MRS | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 66.7% | 2/3 |
| Large fleshy ears | 66.7% | 2/3 |
| Abnormality of the eye | 100.0% | 3/3 |
| Nystagmus | 66.7% | 2/3 |
| Strabismus | 66.7% | 2/3 |
| Abnormality of the nose | 50.0% | 1/2 |
| Prominent nasal bridge | 50.0% | 1/2 |
| Abnormality of the mouth | 100.0% | 4/4 |
| Wide mouth | 75.0% | 3/4 |
| Open mouth | 25.0% | 1/4 |
| Tented upper lip vermilion | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 1/1 |
| Absent smooth pursuit | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 2/2 |
| Microcephaly | 100.0% | 2/2 |
| Osteopenia | 50.0% | 1/2 |