| Finding | Percentage | Cases |
|---|---|---|
| Gender | ||
| Male | 51.9% | 28/54 |
| Female | 48.1% | 26/54 |
| Indifferent | 0% | 0/54 |
| Unknown | 0% | 0/54 |
| General | ||
| Birth Length | 0% | 0/51 |
| Birth Weight | 0% | 0/51 |
| Birth Head circumference | 0% | 0/51 |
| Current Height | 0% | 0/51 |
| Current Weight | 0% | 0/50 |
| Current Head circumference | 0% | 0/50 |
| 2% | 1/51 | |
| Speech delay | 0% | 0/50 |
| Intellectual disability | 0% | 0/51 |
| Severity of intellectual disability | 0% | 0/4 |
| Neurology | ||
| Neurological abnormalities | 0% | 0/54 |
| 5.6% | 3/54 | |
| Brain abnormality | 0% | 0/54 |
| Facial abnormalities | ||
| Abnormality of the ear | 0% | 0/54 |
| 18.5% | 10/54 | |
| 1.9% | 1/54 | |
| 33.3% | 18/54 | |
| Visual and hearing impairments | ||
| 1.9% | 1/54 | |
| 3.7% | 2/54 | |
| Heart | ||
| 83.3% | 45/54 | |
| Gastrointestinal | ||
| 1.9% | 1/54 | |
| Urogenital | ||
| 13% | 7/54 | |
| Skeleton | ||
| 74.1% | 40/54 | |
| Skin / Hair / Nails | ||
| 51.9% | 28/54 | |
| Endocrine / Immunological / Metabolic | ||
| Endocrine | 0% | 0/54 |
| Metabolic | 0% | 0/54 |
| 3.7% | 2/54 | |
| Neoplasia | ||
| Neoplasia | 0% | 0/54 |
| Inheritance | ||
| 100% | 54/54 | |
SMAD3