All terms in HP
| Label | Id | Description |
|---|---|---|
| Focal autonomic seizure with piloerection | HP_0032767 | |
| Bidirectional ventricular ectopy | HP_0005147 | |
| Pulmonary valve defects | HP_0005148 | |
| Monotonic speech | HP_0031435 | |
| Focal autonomic seizure with urge to urinate/defecate | HP_0032765 | |
| Coronary artery stenosis | HP_0005145 | |
| Cardiac valve calcification | HP_0005146 | |
| Anomalous origin of right pulmonary artery from ascending aorta | HP_0005143 | |
| Ventricular septal hypertrophy | HP_0005144 | |
| Anterior bowing of long bones | HP_0006473 | |
| Thin long bone diaphyses | HP_0006470 | |
| Fixed elbow flexion | HP_0006471 | |
| Increased CSF glutamate concentration | HP_0500200 | |
| Abnormal CSF glutamate concentration | HP_0500199 | |
| Decreased CSF glutamate concentration | HP_0500201 | |
| Abnormal CSF lysine concentration | HP_0500206 | |
| Abnormal CSF aspartate family amino acid concentration | HP_0500205 | |
| Focal autonomic seizure with erection | HP_0032764 | |
| Persistent repetition of actions | HP_0031432 | |
| Absent muscle fiber alpha sarcoglycan | HP_0030101 |