| Finding | Percentage | Cases |
|---|---|---|
| Gender | ||
| Male | 100% | 1/1 |
| Female | 0% | 0/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| General | ||
| Birth Length | 0% | 0/1 |
| Birth Weight | 0% | 0/1 |
| Birth Head circumference | 0% | 0/1 |
| 100% | 1/1 | |
| 100% | 1/1 | |
| Current Head circumference | 0% | 0/1 |
| 100% | 1/1 | |
| 100% | 1/1 | |
| Intellectual disability | 0% | 0/1 |
| Neurology | ||
| 100% | 1/1 | |
| 100% | 1/1 | |
| Brain abnormality | 0% | 0/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 0% | 0/1 |
| 100% | 1/1 | |
| Abnormality of the nose | 0% | 0/1 |
| Abnormality of the mouth | 0% | 0/1 |
| Visual and hearing impairments | ||
| Abnormal hearing | 0% | 0/1 |
| 100% | 1/1 | |
| Heart | ||
| 100% | 1/1 | |
| Pulmonary | ||
| 100% | 1/1 | |
| Gastrointestinal | ||
| 100% | 1/1 | |
| Urogenital | ||
| 100% | 1/1 | |
| Skeleton | ||
| 100% | 1/1 | |
| Skin / Hair / Nails | ||
| 100% | 1/1 | |
| Endocrine / Immunological / Metabolic | ||
| Endocrine | 0% | 0/1 |
| Metabolic | 0% | 0/1 |
| 100% | 1/1 | |
| Neoplasia | ||
| Neoplasia | 0% | 0/1 |
| Inheritance | ||
| 100% | 1/1 | |
ADAMTSL2 autosomal dominant