| Finding | Percentage | Cases |
|---|---|---|
| Gender | ||
| Male | 68.8% | 11/16 |
| Female | 31.3% | 5/16 |
| Indifferent | 0% | 0/16 |
| Unknown | 0% | 0/16 |
| General | ||
| Birth Length | 0% | 0/16 |
| Birth Weight | 0% | 0/16 |
| Birth Head circumference | 0% | 0/16 |
| Current Height | 0% | 0/16 |
| Current Weight | 0% | 0/16 |
| Current Head circumference | 0% | 0/16 |
| 25% | 4/16 | |
| 37.5% | 6/16 | |
| 31.3% | 5/16 | |
| Severity of intellectual disability | 0% | 0/4 |
| Neurology | ||
| 100% | 16/16 | |
| 43.8% | 7/16 | |
| 31.3% | 5/16 | |
| Facial abnormalities | ||
| Abnormality of the ear | 0% | 0/16 |
| Abnormality of the eye | 0% | 0/16 |
| Abnormality of the nose | 0% | 0/16 |
| Abnormality of the mouth | 0% | 0/16 |
| Visual and hearing impairments | ||
| 6.3% | 1/16 | |
| Abnormal vision | 0% | 0/16 |
| Heart | ||
| Abnormality of the heart | 0% | 0/16 |
| Pulmonary | ||
| 6.3% | 1/16 | |
| Gastrointestinal | ||
| 18.8% | 3/16 | |
| Urogenital | ||
| Urogenital | 0% | 0/16 |
| Skeleton | ||
| 68.8% | 11/16 | |
| Skin / Hair / Nails | ||
| Skin/Hair/Nails | 0% | 0/16 |
| Endocrine / Immunological / Metabolic | ||
| Endocrine | 0% | 0/16 |
| Metabolic | 0% | 0/16 |
| Immune | 0% | 0/16 |
| Neoplasia | ||
| Neoplasia | 0% | 0/16 |
| Inheritance | ||
| 93.8% | 15/16 | |
ATP1A1