All terms in HP
| Label | Id | Description |
|---|---|---|
| Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence | HP_0030634 | |
| Increased RBC distribution width | HP_0031965 | |
| Decreased circulating purine concentration | HP_0004369 | |
| Elevated serum anion gap | HP_0031962 | |
| Abnormal serum anion gap | HP_0031961 | |
| Hyperautofluorescent macular lesion | HP_0030631 | |
| Hypoautofluorescent macular lesion | HP_0030632 | |
| Decreased serum anion gap | HP_0031963 | |
| Postaxial polydactyly type A | HP_0005696 | |
| Ulnar bowing | HP_0003031 | |
| Partial fusion of proximal row of carpal bones | HP_0005694 | |
| Joint hyperflexibility | HP_0005692 | |
| Arm dystonia | HP_0031960 | |
| Irregular central macular autofluorescence | HP_0030630 | |
| Loss of ability to walk | HP_0006957 | |
| Posterior fusion of lumbosacral vertebrae | HP_0005626 | |
| Rhombencephalosynapsis | HP_0031913 | |
| Type D brachydactyly | HP_0005627 | |
| Abnormal auditory evoked potentials | HP_0006958 | |
| Olivopontocerebellar hypoplasia | HP_0006955 |