PIK3CA
| 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 |
| > P98 : Macrocephaly at birth | 100.0% | 1/1 |
| Current Height abnormalities | 0% | 0/1 |
| Current Weight abnormalities | 0% | 0/1 |
| Current Head circumference abnormalities | 100.0% | 1/1 |
| > P98 : Macrocephaly | 100.0% | 1/1 |
| Neurology | ||
| Brain abnormality | 100.0% | 1/1 |
| Macrocephaly | 100.0% | 1/1 |
| Vascular tortuosity | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 1/1 |
| Eversion of lateral third of lower eyelids | 100.0% | 1/1 |
| Hypertelorism | 100.0% | 1/1 |
| Abnormality of the nose | 100.0% | 1/1 |
| Wide nose | 100.0% | 1/1 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 1/1 |
| Polyuria | 100.0% | 1/1 |
| Renal cortical microcysts | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Vertebral segmentation defect | 100.0% | 1/1 |
| Vertebral fusion | 100.0% | 1/1 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Precocious puberty | 100.0% | 1/1 |