All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal muscle fiber alpha sarcoglycan | HP_0030100 | |
| Decreased CSF lysine concentration | HP_0500207 | |
| Alexithymia | HP_0031433 | |
| Reduced muscle fiber alpha sarcoglycan | HP_0030102 | |
| Increased CSF lysine concentration | HP_0500208 | |
| Focal autonomic seizure with pallor/flushing | HP_0032762 | |
| Oligoclonal T cell expansion | HP_0031430 | |
| Abnormal CSF methionine concentration | HP_0500209 | |
| Persistent repetition of words | HP_0031431 | |
| Focal aware autonomic seizure with pallor/flushing | HP_0032761 | |
| Abnormal CSF arginine concentration | HP_0500202 | |
| Abnormal CSF glutamine family amino acid concentration | HP_0500195 | |
| Increased CSF arginine concentration | HP_0500203 | |
| Decreased CSF arginine concentration | HP_0500204 | |
| Abnormal CSF amino acid concentration | HP_0500184 | |
| Decreased circulating osteocalcin level | HP_0031429 | |
| Abnormal circulating osteocalcin level | HP_0031427 | |
| Increased circulating osteocalcin level | HP_0031428 | |
| Focal aware myoclonic seizure | HP_0032758 | |
| Focal aware hemiclonic seizure | HP_0032757 |