All terms in HP
| Label | Id | Description |
|---|---|---|
| Prominent nasolabial fold | HP_0005272 | |
| Depressed nasal bridge | HP_0005280 | |
| Hypoplastic nasal bridge | HP_0005281 | |
| Slow pupillary light response | HP_0030211 | |
| Myelin-like whorls in vacuolated fibers | HP_0031542 | |
| Focal impaired awareness cognitive seizure with auditory agnosia | HP_0032874 | |
| Focal aware sensory seizure with cephalic sensation | HP_0032873 | |
| Collectionism | HP_0030212 | |
| Focal impaired awareness cognitive seizure with illusion | HP_0032872 | |
| Linear IgG deposits along the epidermal basement membrane zone | HP_0031540 | |
| Muscle specific kinase antibody positivity | HP_0030210 | |
| Linear C3 deposits along the epidermal basement membrane zone | HP_0031541 | |
| Focal aware cognitive seizure with hallucination | HP_0032871 | |
| Focal impaired awareness cognitive seizure with dyslexia/alexia | HP_0032870 | |
| Tessier number 7 facial cleft | HP_0031579 | |
| Mesenteric venous thrombosis | HP_0030248 | |
| Splanchnic vein thrombosis | HP_0030247 | |
| Enanthema | HP_0030249 | |
| Tessier number 5 facial cleft | HP_0031577 | |
| Orbital cleft | HP_0031574 |