All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal midbrain morphology | HP_0002418 | |
| Pelvic girdle muscle weakness | HP_0003749 | |
| Type 1 fibers relatively smaller than type 2 fibers | HP_0003755 | |
| Long-tract signs | HP_0002423 | |
| Anarthria | HP_0002425 | |
| Skeletal myopathy | HP_0003756 | |
| Increased muscle fatiguability | HP_0003750 | |
| Poor head control | HP_0002421 | |
| Episodic flaccid weakness | HP_0003752 | |
| Muscle flaccidity | HP_0010547 | |
| Hypoplasia of lymphatic vessels | HP_0003759 | |
| Expressive aphasia | HP_0002427 | |
| Hyperautofluorescent retinal lesion | HP_0025158 | |
| Abnormal fundus autofluorescence imaging | HP_0030602 | |
| Hypoautofluorescent retinal lesion | HP_0025159 | |
| Dependency on intravenous nutrition | HP_0025156 | |
| Increased urinary sedoheptulose | HP_0025157 | |
| Hyperextensibility of the finger joints | HP_0001187 | |
| Finger joint hypermobility | HP_0006094 | |
| Hand clenching | HP_0001188 |