All terms in HP
| Label | Id | Description |
|---|---|---|
| Unilateral perisylvian polymicrogyria | HP_0032406 | |
| Unilateral polymicrogyria | HP_0006927 | |
| Confetti-like hypopigmented macules | HP_0007449 | |
| Grade II vesicoureteral reflux | HP_0033736 | |
| Low-grade vesicoureteral reflux | HP_0033733 | |
| Increased urinary phosphoserine level | HP_0032405 | |
| Shortening of all distal phalanges of the fingers | HP_0006118 | |
| Hyperkeratosis over edematous areas | HP_0007448 | |
| Grade I vesicoureteral reflux | HP_0033735 | |
| Testicular mass | HP_0032404 | |
| Diffuse palmoplantar hyperkeratosis | HP_0007447 | |
| Asparaginuria | HP_0032403 | |
| Palmoplantar blistering | HP_0007446 | |
| Abnormal intrarenal artery morphology | HP_0033836 | |
| Multiple palmar creases | HP_0006114 | |
| Aplasia/Hypoplasia of the ear | HP_0008771 | |
| Partial albinism | HP_0007443 | |
| Expanded phalanges with widened medullary cavities | HP_0006112 | |
| Aplasia/Hypoplasia of the middle ear | HP_0008773 | |
| Hyperpigmented/hypopigmented macules | HP_0007441 |