SLC45A1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/2 |
| Female | 100.0% | 2/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 0% | 0/2 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 50.0% | 1/2 |
| < P3 : Short stature | 50.0% | 1/2 |
| Current Weight abnormalities | 0% | 0/2 |
| Current Head circumference abnormalities | 0% | 0/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Focal seizures with impairment of consciousness or awareness | 100.0% | 2/2 |
| Behavioral problems | 100.0% | 2/2 |
| Abnormal aggressive, impulsive or violent behavior | 50.0% | 1/2 |
| Autism | 50.0% | 1/2 |
| Echolalia | 50.0% | 1/2 |
| Motor tics | 50.0% | 1/2 |
| Obsessive-compulsive behavior | 50.0% | 1/2 |
| Obsessive-compulsive trait | 50.0% | 1/2 |
| Repetitive compulsive behavior | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 1/2 |
| Downslanted palpebral fissures | 50.0% | 1/2 |
| Abnormality of the eye | 100.0% | 2/2 |
| Downslanted palpebral fissures | 100.0% | 2/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| Abnormality of upper lip | 100.0% | 2/2 |
| Smooth philtrum | 100.0% | 2/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 1/2 |
| Gastroesophageal reflux | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 1/2 |
| Scoliosis | 50.0% | 1/2 |