All terms in HP
| Label | Id | Description |
|---|---|---|
| Enlarged sylvian cistern | HP_0100952 | |
| Giant cell granuloma of mandible | HP_0100955 | |
| Abnormal mandible morphology | HP_0000277 | |
| Open operculum | HP_0100954 | |
| Cerebral hypoplasia | HP_0006872 | |
| Abnormal cerebral cortex morphology | HP_0002538 | |
| Abnormal renal medulla morphology | HP_0100957 | |
| Dense metaphyseal bands | HP_0100959 | |
| Narrow foramen obturatorium | HP_0100958 | |
| Abnormality of the ischium | HP_0003174 | |
| Abnormality of the pubic bone | HP_0003172 | |
| Abnormal spleen morphology | HP_0025408 | |
| Abnormality of olfactory lobe morphology | HP_0025057 | |
| Abnormality of forebrain morphology | HP_0100547 | |
| Hypothalamic atrophy | HP_0025058 | |
| Brushfield spots | HP_0001088 | |
| Abnormal iris pigmentation | HP_0008034 | |
| Iris atrophy | HP_0001089 | |
| Abnormality iris morphology | HP_0000525 | |
| Reduced brain creatine level by MRS | HP_0025051 |