All terms in HP
| Label | Id | Description |
|---|---|---|
| T2 hypointense brainstem | HP_0012750 | |
| Abnormal brainstem MRI signal intensity | HP_0012747 | |
| Thick anterior alveolar ridges | HP_0009100 | |
| Alveolar ridge overgrowth | HP_0009085 | |
| Submucous cleft lip | HP_0009101 | |
| Anterior open-bite malocclusion | HP_0009102 | |
| Open bite | HP_0010807 | |
| Aplasia/Hypoplasia involving the pelvis | HP_0009103 | |
| Hyperchloremia | HP_0011423 | |
| Abnormal blood chloride concentration | HP_0011422 | |
| Enlarged brainstem | HP_0012755 | |
| CNS hypermyelination | HP_0012754 | |
| Aplasia/Hypoplasia of the pubic bone | HP_0009104 | |
| Increased serum zinc | HP_0011424 | |
| Abnormal blood zinc concentration | HP_0008277 | |
| T2 hypointense basal ganglia | HP_0012753 | |
| Abnormal ossification of the pubic bone | HP_0009105 | |
| Abnormal pelvis bone ossification | HP_0009106 | |
| Abnormal blood ion concentration | HP_0003111 | |
| Focal T2 hypointense basal ganglia lesion | HP_0012752 |