All terms in HP
| Label | Id | Description |
|---|---|---|
| Thickening of the tubular basement membrane | HP_0020132 | |
| Narrow angle glaucoma | HP_0032119 | |
| Increased urine neutrophil count | HP_0020134 | |
| Retinitis | HP_0032118 | |
| Decreased mid-arm muscle circumference | HP_0033449 | |
| Myofibromatosis | HP_0020135 | |
| Soft tissue neoplasm | HP_0031459 | |
| Increased mid-arm muscle circumference | HP_0033448 | |
| Anticardiolipin IgG antibody positivity | HP_0020136 | |
| Elevated circulating isovalerylcarnitine concentration | HP_0033447 | |
| Macrosquare-wave jerks | HP_0032116 | |
| Absent smooth pursuit | HP_0007179 | |
| Focal T2 hyperintense basal ganglia lesion | HP_0007183 | |
| Peripheral hypomyelination | HP_0007182 | |
| Interosseus muscle atrophy | HP_0007181 | |
| Anticardiolipin IgM antibody positivity | HP_0020137 | |
| Elevated circulating butyrylcarnitine concentration | HP_0033446 | |
| Reduced circulating acylcarnitine concentration | HP_0033445 | |
| Elevated circulating dodecanoylcarnitine concentration | HP_0033444 | |
| Elevated circulating propionylcarnitine concentration | HP_0033443 |