All terms in HP
| Label | Id | Description |
|---|---|---|
| Albinism | HP_0001022 | |
| Generalized hypopigmentation | HP_0007513 | |
| Hypopigmentation of hair | HP_0005599 | |
| Memory impairment | HP_0002354 | |
| Cognitive impairment | HP_0100543 | |
| Abnormality of the back musculature | HP_0410168 | |
| EEG abnormality | HP_0002353 | |
| Abnormality of central nervous system electrophysiology | HP_0030178 | |
| Abnormal morphology of the chest musculature | HP_0410167 | |
| Writer's cramp | HP_0002356 | |
| Focal dystonia | HP_0004373 | |
| Centrally nucleated skeletal muscle fibers | HP_0003687 | |
| Skin dimple over apex of long bone angulation | HP_0001024 | |
| Skin dimple | HP_0010781 | |
| Difficulty walking | HP_0002355 | |
| Abnormal morphology of the shoulder musculature | HP_0410169 | |
| Cerebellar cyst | HP_0002350 | |
| Intracranial cystic lesion | HP_0010576 | |
| Leukoencephalopathy | HP_0002352 | |
| Abnormal cerebral morphology | HP_0002060 |