| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 1/1 |
| Female | 0% | 0/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Primary microcephaly | 100.0% | 1/1 |
| 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 | 100.0% | 1/1 |
| Bilateral tonic-clonic seizure | 100.0% | 1/1 |
| Focal impaired awareness seizure | 100.0% | 1/1 |
| Generalized tonic seizure | 100.0% | 1/1 |
| Hypotonia | 100.0% | 1/1 |
| Hypsarrhythmia | 100.0% | 1/1 |
| Seizure | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Abnormal corpus callosum morphology | 100.0% | 1/1 |
| Brain atrophy | 100.0% | 1/1 |
| Small pituitary gland | 100.0% | 1/1 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Cardiomyopathy | 100.0% | 1/1 |
| Dilated cardiomyopathy | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Constipation | 100.0% | 1/1 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Hypertrichosis | 100.0% | 1/1 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Hypopituitarism | 100.0% | 1/1 |
| Panhypopituitarism | 100.0% | 1/1 |