All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal shoulder morphology | HP_0003043 | |
| Laterally deficient tibial plateaux | HP_0003833 | |
| Limb hypertonia | HP_0002509 | |
| Brainstem dysplasia | HP_0002508 | |
| Abnormality of limb epiphysis morphology | HP_0006505 | |
| Abnormality of the upper limb | HP_0002817 | |
| Loss of ambulation | HP_0002505 | |
| Stippled calcification of the shoulder | HP_0003836 | |
| Calcification of the small brain vessels | HP_0002504 | |
| Intracranial arterial calcification | HP_0031306 | |
| Shoulder subluxation | HP_0003835 | |
| Joint subluxation | HP_0032153 | |
| Semilobar holoprosencephaly | HP_0002507 | |
| Holoprosencephaly | HP_0001360 | |
| Diffuse cerebral atrophy | HP_0002506 | |
| Cerebral atrophy | HP_0002059 | |
| Soft-tissue ossification around the shoulders | HP_0003837 | |
| Ectopic ossification | HP_0011986 | |
| Abnormal macular morphology | HP_0001103 | |
| Abnormal retinal morphology | HP_0000479 |