All terms in HP
| Label | Id | Description |
|---|---|---|
| Mongolian blue spot | HP_0011369 | |
| Short 2nd metacarpal | HP_0010038 | |
| Decreased dendritic spine number | HP_0034005 | |
| Abnormal neuron branching | HP_0500032 | |
| Cerebellar gliosis | HP_0012698 | |
| Aplasia of the 1st metacarpal | HP_0010035 | |
| Partial absence of thumb | HP_0009659 | |
| Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio | HP_0034006 | |
| Yellow nails | HP_0011367 | |
| Small basal ganglia | HP_0012697 | |
| Posterior atrophy of corpus callosum | HP_0034007 | |
| Thin corpus callosum | HP_0033725 | |
| Focal T2 hyperintense thalamic lesion | HP_0012692 | |
| Abnormal hair pattern | HP_0010720 | |
| Congenital abnormal hair pattern | HP_0011361 | |
| Osteolytic defects of the 1st metacarpal | HP_0010030 | |
| Focal T2 hypointense thalamic lesion | HP_0012691 | |
| T2 hypointense thalamus | HP_0012690 | |
| Scapular muscle atrophy | HP_0009060 | |
| Infantile axial hypotonia | HP_0009062 |