All terms in HP
| Label | Id | Description |
|---|---|---|
| Decreased Achilles reflex | HP_0009072 | |
| Progressive proximal muscle weakness | HP_0009073 | |
| Progressive muscle weakness | HP_0003323 | |
| Narrow internal auditory canal | HP_0011386 | |
| Abnormality of the internal auditory canal | HP_0011384 | |
| Broad hallux | HP_0010055 | |
| Anti-HLA-B antibody positivity | HP_0034022 | |
| Anti-class I HLA antibody positivity | HP_0034017 | |
| Progressive spinal muscular atrophy | HP_0009067 | |
| Spinal muscular atrophy | HP_0007269 | |
| Enlarged vestibular aqueduct | HP_0011387 | |
| Morphological abnormality of the vestibule of the inner ear | HP_0011376 | |
| Anti-HLA-B IgG1 antibody positivity | HP_0034023 | |
| Abnormal hallux phalanx morphology | HP_0010057 | |
| Anti-HLA-B IgG3 antibody positivity | HP_0034024 | |
| Absent internal auditory canal | HP_0011385 | |
| Lethal infantile mitochondrial myopathy | HP_0009069 | |
| Broad hallux phalanx | HP_0010059 | |
| Elevated circulating sacchoropine concentration | HP_0034026 | |
| Abnormal urinary non-proteinogenic amino acid level | HP_0034027 |