All terms in HP
| Label | Id | Description |
|---|---|---|
| Thoracolumbar scoliosis | HP_0002944 | |
| Cervical kyphosis | HP_0002947 | |
| Abnormal cervical curvature | HP_0005905 | |
| Hoarse cry | HP_0001615 | |
| Supernumerary vertebrae | HP_0002946 | |
| Supernumerary bones of the axial skeleton | HP_0009144 | |
| Abnormal number of vertebrae | HP_0030304 | |
| Macrocephaly | HP_0000256 | |
| Increased head circumference | HP_0040194 | |
| Yellow nodule | HP_0025554 | |
| Periungual teleangiectasia | HP_0025555 | |
| Periorbital purpura | HP_0025552 | |
| Periorbital ecchymosis with tarsal plate sparing | HP_0025553 | |
| Rotary nystagmus | HP_0001583 | |
| Microcephaly | HP_0000252 | |
| Decreased head circumference | HP_0040195 | |
| Lamellar cataract with riders | HP_0025558 | |
| Lamellar cataract | HP_0007971 | |
| Progressive microcephaly | HP_0000253 | |
| Secondary microcephaly | HP_0005484 |