All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal vena cava physiology | HP_0030970 | |
| Easy fatigability | HP_0003388 | |
| Decreased number of large peripheral myelinated nerve fibers | HP_0003387 | |
| Prominent glabella | HP_0002057 | |
| Myopathic facies | HP_0002058 | |
| Peripheral axonal atrophy | HP_0003384 | |
| Heavy supraorbital ridges | HP_0002054 | |
| Curved linear dimple below the lower lip | HP_0002055 | |
| Hypertrophic nerve changes | HP_0003382 | |
| Macroorchidism, postpubertal | HP_0002050 | |
| Cerebrospinal fluid rhinorrhoea | HP_0030998 | |
| Bradykinesia | HP_0002067 | |
| Megaduodenum | HP_0030996 | |
| Neuromuscular dysphagia | HP_0002068 | |
| Atretic vas deferens | HP_0030997 | |
| Pancreas divisum | HP_0030994 | |
| Peritoneal effusion | HP_0030995 | |
| Generalized hypotonia due to defect at the neuromuscular junction | HP_0003397 | |
| Syringomyelia | HP_0003396 | |
| Gowers sign | HP_0003391 |