All terms in HP
| Label | Id | Description |
|---|---|---|
| Perifascicular muscle fiber atrophy | HP_0100296 | |
| Increased endomysial connective tissue | HP_0100297 | |
| Motheaten muscle fibers | HP_0100298 | |
| Renal cortical microcysts | HP_0004734 | |
| EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | HP_0003403 | |
| Decreased miniature endplate potentials | HP_0003402 | |
| Abnormal synaptic transmission at the neuromuscular junction | HP_0003398 | |
| Diffuse axonal swelling | HP_0003405 | |
| Impaired renal uric acid clearance | HP_0004732 | |
| Basal lamina onion bulb formation | HP_0003400 | |
| Onion bulb formation | HP_0003383 | |
| Peripheral nerve compression | HP_0003406 | |
| Distal sensory impairment of all modalities | HP_0003409 | |
| Atlantoaxial abnormality | HP_0003413 | |
| Glomerular subendothelial electron-dense deposits | HP_0004746 | |
| Chronic tubulointerstitial nephritis | HP_0004743 | |
| Proximal femoral metaphyseal irregularity | HP_0003411 | |
| Coronal cleft vertebrae | HP_0003417 | |
| Low back pain | HP_0003419 | |
| Thenar muscle weakness | HP_0003427 |