| Finding | Percentage | Cases |
|---|---|---|
| Gender | ||
| Male | 54.5% | 24/44 |
| Female | 45.5% | 20/44 |
| Indifferent | 0% | 0/44 |
| Unknown | 0% | 0/44 |
| General | ||
| 13.6% | 6/44 | |
| 9.1% | 4/44 | |
| 2.3% | 1/44 | |
| 6.8% | 3/44 | |
| 4.5% | 2/44 | |
| 4.5% | 2/44 | |
| 39.5% | 17/43 | |
| 79.1% | 34/43 | |
| 75% | 33/44 | |
| 34.3% | 12/35 | |
| Neurology | ||
| 31.8% | 14/44 | |
| 54.5% | 24/44 | |
| 6.8% | 3/44 | |
| Facial abnormalities | ||
| 52.3% | 23/44 | |
| 20.5% | 9/44 | |
| 11.4% | 5/44 | |
| 15.9% | 7/44 | |
| Visual and hearing impairments | ||
| 9.1% | 4/44 | |
| 40.9% | 18/44 | |
| Heart | ||
| 34.1% | 15/44 | |
| Pulmonary | ||
| Abnormality of the lungs | 0% | 0/1 |
| Gastrointestinal | ||
| 15.9% | 7/44 | |
| Urogenital | ||
| 54.5% | 24/44 | |
| Skeleton | ||
| 40.9% | 18/44 | |
| Skin / Hair / Nails | ||
| 18.2% | 8/44 | |
| Endocrine / Immunological / Metabolic | ||
| 2.3% | 1/44 | |
| Metabolic | 0% | 0/44 |
| 2.3% | 1/44 | |
| Neoplasia | ||
| 4.5% | 2/44 | |
| Inheritance | ||
| 100% | 44/44 | |
PSMD12