All terms in HP
| Label | Id | Description |
|---|---|---|
| Chin with vertical crease | HP_0400001 | |
| Tall chin | HP_0400000 | |
| Potter facies | HP_0002009 | |
| Large tarsal bones | HP_0004679 | |
| Hyperalaninemia | HP_0003348 | |
| Impaired lymphocyte transformation with phytohemagglutinin | HP_0003347 | |
| Nausea and vomiting | HP_0002017 | |
| Nausea | HP_0002018 | |
| Aortic stiffness | HP_0030965 | |
| Abnormal aortic physiology | HP_0030964 | |
| Low cholesterol esterification rate | HP_0003349 | |
| 3-Methylglutaric aciduria | HP_0003344 | |
| Reduced glutathione synthetase level | HP_0003343 | |
| Microspherophakia | HP_0030961 | |
| Prominent supraorbital arches in adult | HP_0004676 | |
| Elevated urinary norepinephrine | HP_0003345 | |
| Narrow maxilla | HP_0002010 | |
| Subepidermal blistering with cleavage in the lamina lucida | HP_0003341 | |
| Abnormal pulmonary vein physiology | HP_0030969 | |
| Decreased urinary sulfate | HP_0003359 |