TABLE 2.
Most commonly described craniofacial features of 3q29 deletion cohort (N = 31)
| HPO ID | HPO term | Totals (n) | % (N = 31) |
|---|---|---|---|
| HP:0000252 | Microcephaly | 5 | 16.1% |
| HP:0011220 | Prominent forehead | 15 | 48.4% |
| HP:0000582 | Upslanted palpebral fissure | 4 | 12.9% |
| HP:0000490 | Deeply set eyes | 7 | 22.6% |
| HP:0000368 | Low‐set, posteriorly rotated ears | 4 | 12.9% |
| HP:0000272 | Malar flattening | 5 | 16.1% |
| HP:0000445 | Wide nose | 15 | 48.4% |
| HP:0000426 | Prominent nasal bridge | 7 | 22.6% |
| HP:0005274 | Prominent nasal tip | 11 | 35.5% |
| HP:0009765 | Low hanging columella | 7 | 22.6% |
| HP:0000322 | Short philtrum | 5 | 16.1% |
| HP:0000219 | Thin upper lip vermilion | 8 | 25.8% |
| HP:0011081 | Incisor macrodontia | 7 | 22.6% |
| HP:0000308 | Microretrognathia | 5 | 16.1% |
| HP:0000324 | Facial asymmetry | 5 | 16.1% |