All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormality of the pineal gland | HP_0012680 | |
| Broad 1st metacarpal | HP_0010027 | |
| Agenesis of pineal gland | HP_0012687 | |
| Epiphyseal stippling of the first metacarpal | HP_0010024 | |
| Triangular epiphysis of the 1st metacarpal | HP_0010025 | |
| Triangular epiphyses of the thumb | HP_0009696 | |
| Increased pineal volume | HP_0012686 | |
| Mild receptive language delay | HP_0011350 | |
| Opto-chiasmatic atrophy | HP_0034008 | |
| Pelvic lipomatosis | HP_0034009 | |
| Aplasia/Hypoplasia of the 3rd metacarpal | HP_0010039 | |
| Quadriceps muscle atrophy | HP_0009050 | |
| Proximal lower limb amyotrophy | HP_0008956 | |
| Increased muscle glycogen content | HP_0009051 | |
| Distal lower limb muscle weakness | HP_0009053 | |
| Lower limb muscle weakness | HP_0007340 | |
| Scapuloperoneal myopathy | HP_0009054 | |
| White hair | HP_0011364 | |
| Triangular shaped 1st metacarpal | HP_0010033 | |
| Abnormal thalamic MRI signal intensity | HP_0012696 |