All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal brainstem morphology | HP_0002363 | |
| Abnormality of brain morphology | HP_0012443 | |
| Late-onset proximal muscle weakness | HP_0003694 | |
| Subcutaneous lipoma | HP_0001031 | |
| Absent distal interphalangeal creases | HP_0001032 | |
| Absent phalangeal crease | HP_0006109 | |
| Shuffling gait | HP_0002362 | |
| Distal amyotrophy | HP_0003693 | |
| Increased level of myristic acid in serum | HP_0410154 | |
| Abnormal circulating monocarboxylic acid cocentration | HP_0010996 | |
| Limb muscle weakness | HP_0003690 | |
| Abnormality of the musculature of the limbs | HP_0009127 | |
| Eosinophilic infiltration of the esophagus | HP_0410151 | |
| Gastrointestinal eosinophilia | HP_0032064 | |
| Abnormal vascular morphology | HP_0025015 | |
| Abnormality of cardiovascular system morphology | HP_0030680 | |
| Cavernous hemangioma | HP_0001048 | |
| Abnormal capillary morphology | HP_0025016 | |
| Absent dorsal skin creases over affected joints | HP_0001049 | |
| Abnormal finger flexion creases | HP_0006143 |