| Finding | Percentage | Cases |
|---|---|---|
| Gender | ||
| Male | 10% | 3/30 |
| Female | 13.3% | 4/30 |
| Indifferent | 0% | 0/30 |
| Unknown | 76.7% | 23/30 |
| General | ||
| Birth Length | 0% | 0/30 |
| Birth Weight | 0% | 0/30 |
| Birth Head circumference | 0% | 0/30 |
| 3.3% | 1/30 | |
| Current Weight | 0% | 0/30 |
| Current Head circumference | 0% | 0/30 |
| 66.7% | 20/30 | |
| 66.7% | 20/30 | |
| 53.3% | 16/30 | |
| 87.5% | 14/16 | |
| Neurology | ||
| 93.3% | 28/30 | |
| 23.3% | 7/30 | |
| 3.3% | 1/30 | |
| Facial abnormalities | ||
| Abnormality of the ear | 0% | 0/30 |
| Abnormality of the eye | 0% | 0/30 |
| Abnormality of the nose | 0% | 0/30 |
| Abnormality of the mouth | 0% | 0/30 |
| Visual and hearing impairments | ||
| Abnormal hearing | 0% | 0/30 |
| Abnormal vision | 0% | 0/30 |
| Heart | ||
| Abnormality of the heart | 0% | 0/30 |
| Pulmonary | ||
| Abnormality of the lungs | 0% | 0/30 |
| Gastrointestinal | ||
| Gastrointestinal | 0% | 0/30 |
| Urogenital | ||
| Urogenital | 0% | 0/30 |
| Skeleton | ||
| Skeletal abnormalities | 0% | 0/30 |
| Skin / Hair / Nails | ||
| Skin/Hair/Nails | 0% | 0/30 |
| Endocrine / Immunological / Metabolic | ||
| Endocrine | 0% | 0/30 |
| Metabolic | 0% | 0/30 |
| Immune | 0% | 0/30 |
| Neoplasia | ||
| Neoplasia | 0% | 0/30 |
| Inheritance | ||
| 90% | 27/30 | |
ATP6V0C