All terms in HP
| Label | Id | Description |
|---|---|---|
| Patchy hypo- and hyperpigmentation | HP_0007509 | |
| Palmoplantar cutis laxa | HP_0007517 | |
| Moderately short stature | HP_0008848 | |
| Redundant skin on fingers | HP_0007516 | |
| Hypoplastic pilosebaceous units | HP_0007515 | |
| Severe intrauterine growth retardation | HP_0008846 | |
| Edema of the dorsum of hands | HP_0007514 | |
| Mesomelic short stature | HP_0008845 | |
| Hip osteoarthritis | HP_0008843 | |
| Mottled pigmentation of photoexposed areas | HP_0007511 | |
| Focal dermal aplasia/hypoplasia | HP_0007510 | |
| Broad femoral head | HP_0008804 | |
| Hypoplasia of the femoral head | HP_0008802 | |
| Hypoplasia of the lesser trochanter | HP_0008801 | |
| Limited hip movement | HP_0008800 | |
| High iliac wing | HP_0008808 | |
| Acetabular dysplasia | HP_0008807 | |
| Reduced fibroblast CD16 level | HP_0031559 | |
| Reduced fibroblast surface marker level | HP_0031552 | |
| Abnormal muscle fiber valosin-containing protein | HP_0030228 |