| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 33.3% | 1/3 |
| Female | 66.7% | 2/3 |
| 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 | 100.0% | 1/1 |
| < P3 : Decreased body weight | 100.0% | 1/1 |
| Current Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Microcephaly | 100.0% | 1/1 |
| Neurology | ||
| Neurological abnormalities | 33.3% | 1/3 |
| Bilateral convulsive seizures | 33.3% | 1/3 |
| Muscular hypotonia | 33.3% | 1/3 |
| Brain abnormality | 33.3% | 1/3 |
| Abnormality of the corpus callosum | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 1/3 |
| Abnormality of the pinna | 33.3% | 1/3 |
| Abnormality of the eye | 33.3% | 1/3 |
| Abnormal eye morphology | 33.3% | 1/3 |
| Strabismus | 33.3% | 1/3 |
| Visual and hearing impairments | ||
| Abnormal hearing | 33.3% | 1/3 |
| Childhood onset sensorineural hearing impairment | 33.3% | 1/3 |
| Heart | ||
| Abnormality of the heart | 100.0% | 3/3 |
| Left ventricular noncompaction cardiomyopathy | 100.0% | 3/3 |
| Ascending aortic dilation | 33.3% | 1/3 |
| Pulmonary hypertension | 33.3% | 1/3 |
| Secundum atrial septal defect | 33.3% | 1/3 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 33.3% | 1/3 |
| Atopic dermatitis | 33.3% | 1/3 |
| Brittle scalp hair | 33.3% | 1/3 |