All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal CSF valine concentration | HP_0500186 | |
| Decreased CSF valine concentration | HP_0500188 | |
| Broad femoral neck | HP_0006429 | |
| Rudimentary to absent tibiae | HP_0006426 | |
| Juvenile epithelial corneal dystrophy | HP_0007755 | |
| Peg-like central prominence of distal tibial metaphyses | HP_0006423 | |
| Elongated radius | HP_0006424 | |
| Macular dystrophy | HP_0007754 | |
| Asymmetric radial dysplasia | HP_0006420 | |
| Hypoplasia of the fovea | HP_0007750 | |
| Decreased CSF glutamine concentration | HP_0500198 | |
| Abnormal CSF glutamine concentration | HP_0500196 | |
| Decreased CSF isoleucine concentration | HP_0500194 | |
| Increased CSF glutamine concentration | HP_0500197 | |
| Paroxysmal involuntary eye movements | HP_0007704 | |
| Band-shaped corneal dystrophy | HP_0007709 | |
| Absent inner eyelashes | HP_0007708 | |
| Congenital aphakia | HP_0007707 | |
| Chronic irritative conjunctivitis | HP_0007717 | |
| Weak extraocular muscles | HP_0007715 |