| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 2/2 |
| Female | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 0% | 0/1 |
| Current Weight abnormalities | 0% | 0/1 |
| Current Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Microcephaly | 100.0% | 1/1 |
| Neurology | ||
| Neurological abnormalities | 50.0% | 1/2 |
| Neonatal hypotonia | 50.0% | 1/2 |
| Behavioral problems | 100.0% | 1/1 |
| Autism | 100.0% | 1/1 |
| Stereotypic behavior | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 1/2 |
| Prominent nasal bridge | 50.0% | 1/2 |
| Abnormality of the eye | 100.0% | 2/2 |
| Horizontal pendular nystagmus | 50.0% | 1/2 |
| Strabismus | 50.0% | 1/2 |
| Abnormality of the nose | 100.0% | 2/2 |
| Prominent nasal bridge | 100.0% | 2/2 |
| Short philtrum | 50.0% | 1/2 |
| Short columella | 50.0% | 1/2 |
| Underdeveloped nasal alae | 50.0% | 1/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| High palate | 100.0% | 2/2 |
| Irregularly spaced teeth | 50.0% | 1/2 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 1/1 |
| Horizontal pendular nystagmus | 100.0% | 1/1 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Biventricular hypertrophy | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Inguinal hernia | 100.0% | 1/1 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 1/2 |
| Cryptorchidism | 50.0% | 1/2 |