All terms in HP
| Label | Id | Description |
|---|---|---|
| Reduced bone-marrow pro-B cell count | HP_0020048 | |
| Macular dots | HP_0032028 | |
| Hyperosthenuria | HP_0033359 | |
| Abnormal urine osmolality | HP_0033358 | |
| Profound static encephalopathy | HP_0007069 | |
| Nonprogressive encephalopathy | HP_0007030 | |
| Circumungual hyperkeratosis | HP_0008399 | |
| Inferior cerebellar vermis hypoplasia | HP_0007068 | |
| Hypoplastic fifth fingernail | HP_0008398 | |
| Distal peripheral sensory neuropathy | HP_0007067 | |
| Proximal limb muscle stiffness | HP_0007066 | |
| Chronic monilial nail infection | HP_0008396 | |
| Disorganization of the anterior cerebellar vermis | HP_0007065 | |
| Progressive language deterioration | HP_0007064 | |
| Thick corpus callosum | HP_0007074 | |
| Elevated forced expiratory volume in one second | HP_0033350 | |
| Retinal dots | HP_0032027 | |
| Limited head rotation | HP_0033357 | |
| Anetoderma | HP_0032026 | |
| Elevated circulating o-phosphoserine concentration | HP_0033356 |