All terms in HP
| Label | Id | Description |
|---|---|---|
| Type 1 collagen overmodification | HP_0003784 | |
| Abnormal bone collagen fibril morphology | HP_0011862 | |
| Externally rotated/abducted legs | HP_0003783 | |
| Visual field defect | HP_0001123 | |
| Eye of the tiger anomaly of globus pallidus | HP_0002454 | |
| Decreased CSF homovanillic acid concentration | HP_0003785 | |
| Abnormal CSF homovanillic acid concentration | HP_0034200 | |
| Limb dystonia | HP_0002451 | |
| Eunuchoid habitus | HP_0003782 | |
| Decreased body weight | HP_0004325 | |
| Abnormality of corneal size | HP_0001120 | |
| Abnormal neuron morphology | HP_0012757 | |
| Large central visual field defect | HP_0001129 | |
| Retinal arteriolar tortuosity | HP_0001136 | |
| Abnormal retinal artery morphology | HP_0000630 | |
| Retinal vascular tortuosity | HP_0012841 | |
| Marked delay in bone age | HP_0003799 | |
| Delayed skeletal maturation | HP_0002750 | |
| Nemaline bodies | HP_0003798 | |
| Muscle fiber cytoplasmatic inclusion bodies | HP_0100303 |