HERC1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 1/2 |
| Female | 50.0% | 1/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 50.0% | 1/2 |
| > P98 : Large for gestational age | 50.0% | 1/2 |
| Birth Head circumference abnormalities | 50.0% | 1/2 |
| > P98 : Macrocephaly at birth | 50.0% | 1/2 |
| Current Height abnormalities | 0% | 0/2 |
| Current Weight abnormalities | 0% | 0/2 |
| Current Head circumference abnormalities | 0% | 0/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Intellectual disability, severe | 100.0% | 2/2 |
| Generalized hypotonia | 50.0% | 1/2 |
| Brain abnormality | 100.0% | 1/1 |
| Thick corpus callosum | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 2/2 |
| Low-set, posteriorly rotated ears | 100.0% | 2/2 |
| Abnormality of the eye | 100.0% | 2/2 |
| Hypertelorism | 100.0% | 2/2 |
| Proptosis | 50.0% | 1/2 |
| Upslanted palpebral fissure | 50.0% | 1/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| High palate | 50.0% | 1/2 |
| Open mouth | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 1/2 |
| Micropenis | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 2/2 |
| Kyphosis | 50.0% | 1/2 |
| Long fingers | 50.0% | 1/2 |