All terms in HP
| Label | Id | Description |
|---|---|---|
| Hyperhomocystinemia | HP_0002160 | |
| Hyperlysinemia | HP_0002161 | |
| Elevated urine pyrophosphate | HP_0003491 | |
| Opisthotonus | HP_0002179 | |
| Hypoglycemic seizures | HP_0002173 | |
| Postural instability | HP_0002172 | |
| Delayed CNS myelination | HP_0002188 | |
| Neurofibrillary tangles | HP_0002185 | |
| Intellectual disability, profound | HP_0002187 | |
| Cerebral edema | HP_0002181 | |
| Phonophobia | HP_0002183 | |
| Choroid plexus cyst | HP_0002190 | |
| Axonal loss | HP_0003447 | |
| Brittle scalp hair | HP_0004779 | |
| Decreased sensory nerve conduction velocity | HP_0003448 | |
| Decreased size of nerve terminals | HP_0003443 | |
| EMG: neuropathic changes | HP_0003445 | |
| EMG: chronic denervation signs | HP_0003444 | |
| Bronchiectasis | HP_0002110 | |
| Premature graying of body hair | HP_0004771 |