All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal axial muscle morphology | HP_0040286 | |
| Hypoglycemic encephalopathy | HP_0006929 | |
| Metachromatic leukodystrophy variant | HP_0006926 | |
| Large cafe-au-lait macules with irregular margins | HP_0005605 | |
| Progressive vitiligo | HP_0005602 | |
| Numerous congenital melanocytic nevi | HP_0005603 | |
| Midline central nervous system lipomas | HP_0006866 | |
| Congenital giant melanocytic nevus | HP_0005600 | |
| Transient psychotic episodes | HP_0006932 | |
| Frontoparietal cortical dysplasia | HP_0006930 | |
| Bilobate gallbladder | HP_0005608 | |
| Gallbladder dysfunction | HP_0005609 | |
| Impaired distal tactile sensation | HP_0006937 | |
| Hyperpigmented nevi and streak | HP_0005606 | |
| Impaired vibration sensation at ankles | HP_0006938 | |
| Impaired vibration sensation in the lower limbs | HP_0002166 | |
| Impaired distal vibration sensation | HP_0006886 | |
| Abolished vibration sense | HP_0006944 | |
| Arthrogryposis-like hand anomaly | HP_0005612 | |
| Distal arthrogryposis | HP_0005684 |