All terms in HP
| Label | Id | Description |
|---|---|---|
| Decreased uridine diphosphate glucose-4-epimerase level in red blood cells | HP_0410198 | |
| Abnormal uridine diphosphate glucose-4-epimerase level in plasma | HP_0410193 | |
| Decreased uridine diphosphate glucose-4-epimerase level in plasma | HP_0410195 | |
| Increased uridine diphosphate glucose-4-epimerase level in plasma | HP_0410194 | |
| Drowsiness | HP_0002329 | |
| Reduced consciousness/confusion | HP_0004372 | |
| Lymphedema | HP_0001004 | |
| Edema | HP_0000969 | |
| Agenesis of cerebellar vermis | HP_0002335 | |
| Aplasia/Hypoplasia of the cerebellar vermis | HP_0006817 | |
| Dermatological manifestations of systemic disorders | HP_0001005 | |
| Generalized abnormality of skin | HP_0011354 | |
| Multicentric ossification of proximal humeral epiphyses | HP_0004997 | |
| Irregular ossification of the humeral epiphyses | HP_0003897 | |
| Hirsutism | HP_0001007 | |
| Abnormal hair quantity | HP_0011362 | |
| Abnormality of skin pigmentation | HP_0001000 | |
| Lack of peer relationships | HP_0002332 | |
| Impaired social interactions | HP_0000735 | |
| Recurrent paroxysmal headache | HP_0002331 |